Canonical Allele Identifier: CA2176326576

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242400T= , CM000677.2:g.50242400T=	GRCh38
NC_000015.9:g.50534597T= , CM000677.1:g.50534597T=	GRCh37
NC_000015.8:g.48321889T=	NCBI36
NG_027487.1:g.28566A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1849A= MANE Select	ENSP00000267845.3:p.Arg617=
ENST00000267845.7:c.1849A=	ENSP00000267845.3:p.Arg617=
ENST00000543581.5:c.1750A=	ENSP00000440252.1:p.Arg584=
ENST00000559816.1:n.1593A=
NM_001306146.1:c.1750A=	NP_001293075.1:p.Arg584=
NM_002112.3:c.1849A=	NP_002103.2:p.Arg617=
XM_011521479.1:c.1612A=	XP_011519781.1:p.Arg538=
XM_011521480.1:c.1417A=	XP_011519782.1:p.Arg473=
XM_017022094.1:c.1954A=	XP_016877583.1:p.Arg652=
XM_017022095.1:c.1855A=	XP_016877584.1:p.Arg619=
XM_017022096.1:c.1726A=	XP_016877585.1:p.Arg576=
XM_017022097.1:c.1717A=	XP_016877586.1:p.Arg573=
XM_017022098.1:c.1522A=	XP_016877587.1:p.Arg508=
NM_002112.4:c.1849A= MANE Select	NP_002103.2:p.Arg617=
NM_001306146.2:c.1750A=	NP_001293075.1:p.Arg584=