Canonical Allele Identifier: CA2176326547

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242315C= , CM000677.2:g.50242315C=	GRCh38
NC_000015.9:g.50534512C= , CM000677.1:g.50534512C=	GRCh37
NC_000015.8:g.48321804C=	NCBI36
NG_027487.1:g.28651G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1934G= MANE Select	ENSP00000267845.3:p.Cys645=
ENST00000267845.7:c.1934G=	ENSP00000267845.3:p.Cys645=
ENST00000543581.5:c.1835G=	ENSP00000440252.1:p.Cys612=
ENST00000559816.1:n.1678G=
NM_001306146.1:c.1835G=	NP_001293075.1:p.Cys612=
NM_002112.3:c.1934G=	NP_002103.2:p.Cys645=
XM_011521479.1:c.1697G=	XP_011519781.1:p.Cys566=
XM_011521480.1:c.1502G=	XP_011519782.1:p.Cys501=
XM_017022094.1:c.2039G=	XP_016877583.1:p.Cys680=
XM_017022095.1:c.1940G=	XP_016877584.1:p.Cys647=
XM_017022096.1:c.1811G=	XP_016877585.1:p.Cys604=
XM_017022097.1:c.1802G=	XP_016877586.1:p.Cys601=
XM_017022098.1:c.1607G=	XP_016877587.1:p.Cys536=
NM_002112.4:c.1934G= MANE Select	NP_002103.2:p.Cys645=
NM_001306146.2:c.1835G=	NP_001293075.1:p.Cys612=