Canonical Allele Identifier: CA2176326557

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242349T= , CM000677.2:g.50242349T=	GRCh38
NC_000015.9:g.50534546T= , CM000677.1:g.50534546T=	GRCh37
NC_000015.8:g.48321838T=	NCBI36
NG_027487.1:g.28617A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1900A= MANE Select	ENSP00000267845.3:p.Ile634=
ENST00000267845.7:c.1900A=	ENSP00000267845.3:p.Ile634=
ENST00000543581.5:c.1801A=	ENSP00000440252.1:p.Ile601=
ENST00000559816.1:n.1644A=
NM_001306146.1:c.1801A=	NP_001293075.1:p.Ile601=
NM_002112.3:c.1900A=	NP_002103.2:p.Ile634=
XM_011521479.1:c.1663A=	XP_011519781.1:p.Ile555=
XM_011521480.1:c.1468A=	XP_011519782.1:p.Ile490=
XM_017022094.1:c.2005A=	XP_016877583.1:p.Ile669=
XM_017022095.1:c.1906A=	XP_016877584.1:p.Ile636=
XM_017022096.1:c.1777A=	XP_016877585.1:p.Ile593=
XM_017022097.1:c.1768A=	XP_016877586.1:p.Ile590=
XM_017022098.1:c.1573A=	XP_016877587.1:p.Ile525=
NM_002112.4:c.1900A= MANE Select	NP_002103.2:p.Ile634=
NM_001306146.2:c.1801A=	NP_001293075.1:p.Ile601=