Canonical Allele Identifier: CA2176326634

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242545G= , CM000677.2:g.50242545G=	GRCh38
NC_000015.9:g.50534742G= , CM000677.1:g.50534742G=	GRCh37
NC_000015.8:g.48322034G=	NCBI36
NG_027487.1:g.28421C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1704C= MANE Select	ENSP00000267845.3:p.Phe568=
ENST00000267845.7:c.1704C=	ENSP00000267845.3:p.Phe568=
ENST00000543581.5:c.1605C=	ENSP00000440252.1:p.Phe535=
ENST00000559816.1:n.1448C=
NM_001306146.1:c.1605C=	NP_001293075.1:p.Phe535=
NM_002112.3:c.1704C=	NP_002103.2:p.Phe568=
XM_011521479.1:c.1467C=	XP_011519781.1:p.Phe489=
XM_011521480.1:c.1272C=	XP_011519782.1:p.Phe424=
XM_017022094.1:c.1809C=	XP_016877583.1:p.Phe603=
XM_017022095.1:c.1710C=	XP_016877584.1:p.Phe570=
XM_017022096.1:c.1581C=	XP_016877585.1:p.Phe527=
XM_017022097.1:c.1572C=	XP_016877586.1:p.Phe524=
XM_017022098.1:c.1377C=	XP_016877587.1:p.Phe459=
NM_002112.4:c.1704C= MANE Select	NP_002103.2:p.Phe568=
NM_001306146.2:c.1605C=	NP_001293075.1:p.Phe535=