Canonical Allele Identifier: CA2176326628

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242523G= , CM000677.2:g.50242523G=	GRCh38
NC_000015.9:g.50534720G= , CM000677.1:g.50534720G=	GRCh37
NC_000015.8:g.48322012G=	NCBI36
NG_027487.1:g.28443C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1726C= MANE Select	ENSP00000267845.3:p.Gln576=
ENST00000267845.7:c.1726C=	ENSP00000267845.3:p.Gln576=
ENST00000543581.5:c.1627C=	ENSP00000440252.1:p.Gln543=
ENST00000559816.1:n.1470C=
NM_001306146.1:c.1627C=	NP_001293075.1:p.Gln543=
NM_002112.3:c.1726C=	NP_002103.2:p.Gln576=
XM_011521479.1:c.1489C=	XP_011519781.1:p.Gln497=
XM_011521480.1:c.1294C=	XP_011519782.1:p.Gln432=
XM_017022094.1:c.1831C=	XP_016877583.1:p.Gln611=
XM_017022095.1:c.1732C=	XP_016877584.1:p.Gln578=
XM_017022096.1:c.1603C=	XP_016877585.1:p.Gln535=
XM_017022097.1:c.1594C=	XP_016877586.1:p.Gln532=
XM_017022098.1:c.1399C=	XP_016877587.1:p.Gln467=
NM_002112.4:c.1726C= MANE Select	NP_002103.2:p.Gln576=
NM_001306146.2:c.1627C=	NP_001293075.1:p.Gln543=