Canonical Allele Identifier: CA2176326548

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242317T= , CM000677.2:g.50242317T=	GRCh38
NC_000015.9:g.50534514T= , CM000677.1:g.50534514T=	GRCh37
NC_000015.8:g.48321806T=	NCBI36
NG_027487.1:g.28649A=

Transcript Alleles

HGVS	Amino-acid Change
NM_002112.4:c.1932A= MANE Select	NP_002103.2:p.Glu644=
ENST00000267845.8:c.1932A= MANE Select	ENSP00000267845.3:p.Glu644=
NM_001306146.1:c.1833A=	NP_001293075.1:p.Glu611=
NM_001306146.2:c.1833A=	NP_001293075.1:p.Glu611=
NM_002112.3:c.1932A=	NP_002103.2:p.Glu644=
ENST00000267845.7:c.1932A=	ENSP00000267845.3:p.Glu644=
ENST00000543581.5:c.1833A=	ENSP00000440252.1:p.Glu611=
ENST00000559816.1:n.1676A=
XM_011521479.1:c.1695A=	XP_011519781.1:p.Glu565=
XM_011521480.1:c.1500A=	XP_011519782.1:p.Glu500=
XM_017022094.1:c.2037A=	XP_016877583.1:p.Glu679=
XM_017022095.1:c.1938A=	XP_016877584.1:p.Glu646=
XM_017022096.1:c.1809A=	XP_016877585.1:p.Glu603=
XM_017022097.1:c.1800A=	XP_016877586.1:p.Glu600=
XM_017022098.1:c.1605A=	XP_016877587.1:p.Glu535=