Canonical Allele Identifier: CA2176326559

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242355T= , CM000677.2:g.50242355T=	GRCh38
NC_000015.9:g.50534552T= , CM000677.1:g.50534552T=	GRCh37
NC_000015.8:g.48321844T=	NCBI36
NG_027487.1:g.28611A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1894A= MANE Select	ENSP00000267845.3:p.Lys632=
ENST00000267845.7:c.1894A=	ENSP00000267845.3:p.Lys632=
ENST00000543581.5:c.1795A=	ENSP00000440252.1:p.Lys599=
ENST00000559816.1:n.1638A=
NM_001306146.1:c.1795A=	NP_001293075.1:p.Lys599=
NM_002112.3:c.1894A=	NP_002103.2:p.Lys632=
XM_011521479.1:c.1657A=	XP_011519781.1:p.Lys553=
XM_011521480.1:c.1462A=	XP_011519782.1:p.Lys488=
XM_017022094.1:c.1999A=	XP_016877583.1:p.Lys667=
XM_017022095.1:c.1900A=	XP_016877584.1:p.Lys634=
XM_017022096.1:c.1771A=	XP_016877585.1:p.Lys591=
XM_017022097.1:c.1762A=	XP_016877586.1:p.Lys588=
XM_017022098.1:c.1567A=	XP_016877587.1:p.Lys523=
NM_002112.4:c.1894A= MANE Select	NP_002103.2:p.Lys632=
NM_001306146.2:c.1795A=	NP_001293075.1:p.Lys599=