Canonical Allele Identifier: CA7554515
Gene: HDC HGNC NCBI

Linked Data

dbSNP Id: rs769452104

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.50242561T>A , CM000677.2:g.50242561T>A GRCh38
NC_000015.9:g.50534758T>A , CM000677.1:g.50534758T>A GRCh37
NC_000015.8:g.48322050T>A NCBI36
NG_027487.1:g.28405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267845.8:c.1688A>T MANE Select ENSP00000267845.3:p.His563Leu
ENST00000267845.7:c.1688A>T ENSP00000267845.3:p.His563Leu
ENST00000543581.5:c.1589A>T ENSP00000440252.1:p.His530Leu
ENST00000559816.1:n.1432A>T
NM_001306146.1:c.1589A>T NP_001293075.1:p.His530Leu
NM_002112.3:c.1688A>T NP_002103.2:p.His563Leu
XM_011521479.1:c.1451A>T XP_011519781.1:p.His484Leu
XM_011521480.1:c.1256A>T XP_011519782.1:p.His419Leu
XM_017022094.1:c.1793A>T XP_016877583.1:p.His598Leu
XM_017022095.1:c.1694A>T XP_016877584.1:p.His565Leu
XM_017022096.1:c.1565A>T XP_016877585.1:p.His522Leu
XM_017022097.1:c.1556A>T XP_016877586.1:p.His519Leu
XM_017022098.1:c.1361A>T XP_016877587.1:p.His454Leu
NM_002112.4:c.1688A>T MANE Select NP_002103.2:p.His563Leu
NM_001306146.2:c.1589A>T NP_001293075.1:p.His530Leu