Canonical Allele Identifier: CA2176326617

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242502G= , CM000677.2:g.50242502G=	GRCh38
NC_000015.9:g.50534699G= , CM000677.1:g.50534699G=	GRCh37
NC_000015.8:g.48321991G=	NCBI36
NG_027487.1:g.28464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1747C= MANE Select	ENSP00000267845.3:p.Arg583=
ENST00000267845.7:c.1747C=	ENSP00000267845.3:p.Arg583=
ENST00000543581.5:c.1648C=	ENSP00000440252.1:p.Arg550=
ENST00000559816.1:n.1491C=
NM_001306146.1:c.1648C=	NP_001293075.1:p.Arg550=
NM_002112.3:c.1747C=	NP_002103.2:p.Arg583=
XM_011521479.1:c.1510C=	XP_011519781.1:p.Arg504=
XM_011521480.1:c.1315C=	XP_011519782.1:p.Arg439=
XM_017022094.1:c.1852C=	XP_016877583.1:p.Arg618=
XM_017022095.1:c.1753C=	XP_016877584.1:p.Arg585=
XM_017022096.1:c.1624C=	XP_016877585.1:p.Arg542=
XM_017022097.1:c.1615C=	XP_016877586.1:p.Arg539=
XM_017022098.1:c.1420C=	XP_016877587.1:p.Arg474=
NM_002112.4:c.1747C= MANE Select	NP_002103.2:p.Arg583=
NM_001306146.2:c.1648C=	NP_001293075.1:p.Arg550=