Canonical Allele Identifier: CA2176326595

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242444G= , CM000677.2:g.50242444G=	GRCh38
NC_000015.9:g.50534641G= , CM000677.1:g.50534641G=	GRCh37
NC_000015.8:g.48321933G=	NCBI36
NG_027487.1:g.28522C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1805C= MANE Select	ENSP00000267845.3:p.Ala602=
ENST00000267845.7:c.1805C=	ENSP00000267845.3:p.Ala602=
ENST00000543581.5:c.1706C=	ENSP00000440252.1:p.Ala569=
ENST00000559816.1:n.1549C=
NM_001306146.1:c.1706C=	NP_001293075.1:p.Ala569=
NM_002112.3:c.1805C=	NP_002103.2:p.Ala602=
XM_011521479.1:c.1568C=	XP_011519781.1:p.Ala523=
XM_011521480.1:c.1373C=	XP_011519782.1:p.Ala458=
XM_017022094.1:c.1910C=	XP_016877583.1:p.Ala637=
XM_017022095.1:c.1811C=	XP_016877584.1:p.Ala604=
XM_017022096.1:c.1682C=	XP_016877585.1:p.Ala561=
XM_017022097.1:c.1673C=	XP_016877586.1:p.Ala558=
XM_017022098.1:c.1478C=	XP_016877587.1:p.Ala493=
NM_002112.4:c.1805C= MANE Select	NP_002103.2:p.Ala602=
NM_001306146.2:c.1706C=	NP_001293075.1:p.Ala569=