Canonical Allele Identifier: CA490314212

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534739C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242542C>T , CM000677.2:g.50242542C>T	GRCh38
NC_000015.9:g.50534739C>T , CM000677.1:g.50534739C>T	GRCh37
NC_000015.8:g.48322031C>T	NCBI36
NG_027487.1:g.28424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1707G>A MANE Select	ENSP00000267845.3:p.Leu569=
ENST00000267845.7:c.1707G>A	ENSP00000267845.3:p.Leu569=
ENST00000543581.5:c.1608G>A	ENSP00000440252.1:p.Leu536=
ENST00000559816.1:n.1451G>A
NM_001306146.1:c.1608G>A	NP_001293075.1:p.Leu536=
NM_002112.3:c.1707G>A	NP_002103.2:p.Leu569=
XM_011521479.1:c.1470G>A	XP_011519781.1:p.Leu490=
XM_011521480.1:c.1275G>A	XP_011519782.1:p.Leu425=
XM_017022094.1:c.1812G>A	XP_016877583.1:p.Leu604=
XM_017022095.1:c.1713G>A	XP_016877584.1:p.Leu571=
XM_017022096.1:c.1584G>A	XP_016877585.1:p.Leu528=
XM_017022097.1:c.1575G>A	XP_016877586.1:p.Leu525=
XM_017022098.1:c.1380G>A	XP_016877587.1:p.Leu460=
NM_002112.4:c.1707G>A MANE Select	NP_002103.2:p.Leu569=
NM_001306146.2:c.1608G>A	NP_001293075.1:p.Leu536=