Canonical Allele Identifier: CA490313999

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534595C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242398C>T , CM000677.2:g.50242398C>T	GRCh38
NC_000015.9:g.50534595C>T , CM000677.1:g.50534595C>T	GRCh37
NC_000015.8:g.48321887C>T	NCBI36
NG_027487.1:g.28568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1851G>A MANE Select	ENSP00000267845.3:p.Arg617=
ENST00000267845.7:c.1851G>A	ENSP00000267845.3:p.Arg617=
ENST00000543581.5:c.1752G>A	ENSP00000440252.1:p.Arg584=
ENST00000559816.1:n.1595G>A
NM_001306146.1:c.1752G>A	NP_001293075.1:p.Arg584=
NM_002112.3:c.1851G>A	NP_002103.2:p.Arg617=
XM_011521479.1:c.1614G>A	XP_011519781.1:p.Arg538=
XM_011521480.1:c.1419G>A	XP_011519782.1:p.Arg473=
XM_017022094.1:c.1956G>A	XP_016877583.1:p.Arg652=
XM_017022095.1:c.1857G>A	XP_016877584.1:p.Arg619=
XM_017022096.1:c.1728G>A	XP_016877585.1:p.Arg576=
XM_017022097.1:c.1719G>A	XP_016877586.1:p.Arg573=
XM_017022098.1:c.1524G>A	XP_016877587.1:p.Arg508=
NM_002112.4:c.1851G>A MANE Select	NP_002103.2:p.Arg617=
NM_001306146.2:c.1752G>A	NP_001293075.1:p.Arg584=