Canonical Allele Identifier: CA2176326596

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242448C= , CM000677.2:g.50242448C=	GRCh38
NC_000015.9:g.50534645C= , CM000677.1:g.50534645C=	GRCh37
NC_000015.8:g.48321937C=	NCBI36
NG_027487.1:g.28518G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1801G= MANE Select	ENSP00000267845.3:p.Glu601=
ENST00000267845.7:c.1801G=	ENSP00000267845.3:p.Glu601=
ENST00000543581.5:c.1702G=	ENSP00000440252.1:p.Glu568=
ENST00000559816.1:n.1545G=
NM_001306146.1:c.1702G=	NP_001293075.1:p.Glu568=
NM_002112.3:c.1801G=	NP_002103.2:p.Glu601=
XM_011521479.1:c.1564G=	XP_011519781.1:p.Glu522=
XM_011521480.1:c.1369G=	XP_011519782.1:p.Glu457=
XM_017022094.1:c.1906G=	XP_016877583.1:p.Glu636=
XM_017022095.1:c.1807G=	XP_016877584.1:p.Glu603=
XM_017022096.1:c.1678G=	XP_016877585.1:p.Glu560=
XM_017022097.1:c.1669G=	XP_016877586.1:p.Glu557=
XM_017022098.1:c.1474G=	XP_016877587.1:p.Glu492=
NM_002112.4:c.1801G= MANE Select	NP_002103.2:p.Glu601=
NM_001306146.2:c.1702G=	NP_001293075.1:p.Glu568=