Canonical Allele Identifier: CA7554471
Gene: HDC HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2073440

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242317T>G , CM000677.2:g.50242317T>G GRCh38
NC_000015.9:g.50534514T>G , CM000677.1:g.50534514T>G GRCh37
NC_000015.8:g.48321806T>G NCBI36
NG_027487.1:g.28649A>C

Transcript Alleles

HGVS Amino-acid change
NM_001306146.1:c.1833A>C VV NP_001293075.1:p.Glu611Asp
NM_002112.3:c.1932A>C VV NP_002103.2:p.Glu644Asp
XM_011521479.1:c.1695A>C XP_011519781.1:p.Glu565Asp
XM_011521480.1:c.1500A>C XP_011519782.1:p.Glu500Asp
XM_017022094.1:c.2037A>C XP_016877583.1:p.Glu679Asp
XM_017022095.1:c.1938A>C XP_016877584.1:p.Glu646Asp
XM_017022096.1:c.1809A>C XP_016877585.1:p.Glu603Asp
XM_017022097.1:c.1800A>C XP_016877586.1:p.Glu600Asp
XM_017022098.1:c.1605A>C XP_016877587.1:p.Glu535Asp
NM_002112.4:c.1932A>C VV MANE Preferred
ENST00000267845.7:c.1932A>C ENSP00000267845.3:p.Glu644Asp
ENST00000543581.5:c.1833A>C ENSP00000440252.1:p.Glu611Asp
ENST00000559816.1:n.1676A>C