what is the use of HGVS names?

Question

[nasi.1100]

just wanted to know what is GRCH is? and what is the use of HGVS names? NG_009009.1:g.46399C>G for example i know c has changed into g in codon 46399 but what the rest of line means?

Answer 1

[Denise CS]

GRCh literally means Genome Reference Consortium human. Genome Reference Consortium is the group looking after the reference assemblies of human (h), mouse (m), zebrafish (z) and chicken. They are fixing the assemblies and providing new ones in better shape and quality. In addition to GRCh38 (human assembly version 38 from GRC) you may have come across with GRCh37 (sometimes referred to hg19), plus GRCm38 (version 38 of the mouse GRC assembly) and GRCz10 (version 10 of the zebrafish genome). For the HGVS names have a look at the original source i.e. HGVS (Human Genome Variation Society). NG_009009.1:g.46399C>G means that at position 46399 on sequence NG_009009.1 you can have either C or G. The g before 46399 denotes genomic sequence (c would denote cDNA and p would denote the protein sequence).