Canonical Allele Identifier: CA2176326584

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242414A= , CM000677.2:g.50242414A=	GRCh38
NC_000015.9:g.50534611A= , CM000677.1:g.50534611A=	GRCh37
NC_000015.8:g.48321903A=	NCBI36
NG_027487.1:g.28552T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1835T= MANE Select	ENSP00000267845.3:p.Val612=
ENST00000267845.7:c.1835T=	ENSP00000267845.3:p.Val612=
ENST00000543581.5:c.1736T=	ENSP00000440252.1:p.Val579=
ENST00000559816.1:n.1579T=
NM_001306146.1:c.1736T=	NP_001293075.1:p.Val579=
NM_002112.3:c.1835T=	NP_002103.2:p.Val612=
XM_011521479.1:c.1598T=	XP_011519781.1:p.Val533=
XM_011521480.1:c.1403T=	XP_011519782.1:p.Val468=
XM_017022094.1:c.1940T=	XP_016877583.1:p.Val647=
XM_017022095.1:c.1841T=	XP_016877584.1:p.Val614=
XM_017022096.1:c.1712T=	XP_016877585.1:p.Val571=
XM_017022097.1:c.1703T=	XP_016877586.1:p.Val568=
XM_017022098.1:c.1508T=	XP_016877587.1:p.Val503=
NM_002112.4:c.1835T= MANE Select	NP_002103.2:p.Val612=
NM_001306146.2:c.1736T=	NP_001293075.1:p.Val579=