Canonical Allele Identifier: CA2176326568

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242374C= , CM000677.2:g.50242374C=	GRCh38
NC_000015.9:g.50534571C= , CM000677.1:g.50534571C=	GRCh37
NC_000015.8:g.48321863C=	NCBI36
NG_027487.1:g.28592G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1875G= MANE Select	ENSP00000267845.3:p.Leu625=
ENST00000267845.7:c.1875G=	ENSP00000267845.3:p.Leu625=
ENST00000543581.5:c.1776G=	ENSP00000440252.1:p.Leu592=
ENST00000559816.1:n.1619G=
NM_001306146.1:c.1776G=	NP_001293075.1:p.Leu592=
NM_002112.3:c.1875G=	NP_002103.2:p.Leu625=
XM_011521479.1:c.1638G=	XP_011519781.1:p.Leu546=
XM_011521480.1:c.1443G=	XP_011519782.1:p.Leu481=
XM_017022094.1:c.1980G=	XP_016877583.1:p.Leu660=
XM_017022095.1:c.1881G=	XP_016877584.1:p.Leu627=
XM_017022096.1:c.1752G=	XP_016877585.1:p.Leu584=
XM_017022097.1:c.1743G=	XP_016877586.1:p.Leu581=
XM_017022098.1:c.1548G=	XP_016877587.1:p.Leu516=
NM_002112.4:c.1875G= MANE Select	NP_002103.2:p.Leu625=
NM_001306146.2:c.1776G=	NP_001293075.1:p.Leu592=