Canonical Allele Identifier: CA2176326579

Gene: HDC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242407G= , CM000677.2:g.50242407G=	GRCh38
NC_000015.9:g.50534604G= , CM000677.1:g.50534604G=	GRCh37
NC_000015.8:g.48321896G=	NCBI36
NG_027487.1:g.28559C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1842C= MANE Select	ENSP00000267845.3:p.Ile614=
ENST00000267845.7:c.1842C=	ENSP00000267845.3:p.Ile614=
ENST00000543581.5:c.1743C=	ENSP00000440252.1:p.Ile581=
ENST00000559816.1:n.1586C=
NM_001306146.1:c.1743C=	NP_001293075.1:p.Ile581=
NM_002112.3:c.1842C=	NP_002103.2:p.Ile614=
XM_011521479.1:c.1605C=	XP_011519781.1:p.Ile535=
XM_011521480.1:c.1410C=	XP_011519782.1:p.Ile470=
XM_017022094.1:c.1947C=	XP_016877583.1:p.Ile649=
XM_017022095.1:c.1848C=	XP_016877584.1:p.Ile616=
XM_017022096.1:c.1719C=	XP_016877585.1:p.Ile573=
XM_017022097.1:c.1710C=	XP_016877586.1:p.Ile570=
XM_017022098.1:c.1515C=	XP_016877587.1:p.Ile505=
NM_002112.4:c.1842C= MANE Select	NP_002103.2:p.Ile614=
NM_001306146.2:c.1743C=	NP_001293075.1:p.Ile581=