Canonical Allele Identifier: CA392381918

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50254582T>C , CM000677.2:g.50254582T>C	GRCh38
NC_000015.9:g.50546779T>C , CM000677.1:g.50546779T>C	GRCh37
NC_000015.8:g.48334071T>C	NCBI36
NG_027487.1:g.16384A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.524A>G MANE Select	NP_002103.2:p.Asp175Gly
ENST00000267845.8:c.524A>G MANE Select	ENSP00000267845.3:p.Asp175Gly
NM_001306146.1:c.524A>G	NP_001293075.1:p.Asp175Gly
NM_001306146.2:c.524A>G	NP_001293075.1:p.Asp175Gly
NM_002112.3:c.524A>G	NP_002103.2:p.Asp175Gly
ENST00000267845.7:c.524A>G	ENSP00000267845.3:p.Asp175Gly
ENST00000543581.5:c.524A>G	ENSP00000440252.1:p.Asp175Gly
ENST00000558679.1:n.866A>G
ENST00000558761.5:n.390A>G
ENST00000559190.5:n.278A>G
ENST00000559683.1:c.506A>G	ENSP00000453183.1:p.Asp169Gly
XM_011521479.1:c.287A>G	XP_011519781.1:p.Asp96Gly
XM_011521480.1:c.92A>G	XP_011519782.1:p.Asp31Gly
XM_011521481.1:c.524A>G	XP_011519783.1:p.Asp175Gly
XM_017022094.1:c.524A>G	XP_016877583.1:p.Asp175Gly
XM_017022095.1:c.524A>G	XP_016877584.1:p.Asp175Gly
XM_017022096.1:c.296A>G	XP_016877585.1:p.Asp99Gly
XM_017022097.1:c.287A>G	XP_016877586.1:p.Asp96Gly
XM_017022098.1:c.92A>G	XP_016877587.1:p.Asp31Gly
XM_017022099.1:c.524A>G	XP_016877588.1:p.Asp175Gly