Canonical Allele Identifier: CA2176326616

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242501C= , CM000677.2:g.50242501C=	GRCh38
NC_000015.9:g.50534698C= , CM000677.1:g.50534698C=	GRCh37
NC_000015.8:g.48321990C=	NCBI36
NG_027487.1:g.28465G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1748G= MANE Select	ENSP00000267845.3:p.Arg583=
ENST00000267845.7:c.1748G=	ENSP00000267845.3:p.Arg583=
ENST00000543581.5:c.1649G=	ENSP00000440252.1:p.Arg550=
ENST00000559816.1:n.1492G=
NM_001306146.1:c.1649G=	NP_001293075.1:p.Arg550=
NM_002112.3:c.1748G=	NP_002103.2:p.Arg583=
XM_011521479.1:c.1511G=	XP_011519781.1:p.Arg504=
XM_011521480.1:c.1316G=	XP_011519782.1:p.Arg439=
XM_017022094.1:c.1853G=	XP_016877583.1:p.Arg618=
XM_017022095.1:c.1754G=	XP_016877584.1:p.Arg585=
XM_017022096.1:c.1625G=	XP_016877585.1:p.Arg542=
XM_017022097.1:c.1616G=	XP_016877586.1:p.Arg539=
XM_017022098.1:c.1421G=	XP_016877587.1:p.Arg474=
NM_002112.4:c.1748G= MANE Select	NP_002103.2:p.Arg583=
NM_001306146.2:c.1649G=	NP_001293075.1:p.Arg550=