Canonical Allele Identifier: CA2176326597

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242450G= , CM000677.2:g.50242450G=	GRCh38
NC_000015.9:g.50534647G= , CM000677.1:g.50534647G=	GRCh37
NC_000015.8:g.48321939G=	NCBI36
NG_027487.1:g.28516C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1799C= MANE Select	ENSP00000267845.3:p.Thr600=
ENST00000267845.7:c.1799C=	ENSP00000267845.3:p.Thr600=
ENST00000543581.5:c.1700C=	ENSP00000440252.1:p.Thr567=
ENST00000559816.1:n.1543C=
NM_001306146.1:c.1700C=	NP_001293075.1:p.Thr567=
NM_002112.3:c.1799C=	NP_002103.2:p.Thr600=
XM_011521479.1:c.1562C=	XP_011519781.1:p.Thr521=
XM_011521480.1:c.1367C=	XP_011519782.1:p.Thr456=
XM_017022094.1:c.1904C=	XP_016877583.1:p.Thr635=
XM_017022095.1:c.1805C=	XP_016877584.1:p.Thr602=
XM_017022096.1:c.1676C=	XP_016877585.1:p.Thr559=
XM_017022097.1:c.1667C=	XP_016877586.1:p.Thr556=
XM_017022098.1:c.1472C=	XP_016877587.1:p.Thr491=
NM_002112.4:c.1799C= MANE Select	NP_002103.2:p.Thr600=
NM_001306146.2:c.1700C=	NP_001293075.1:p.Thr567=