Canonical Allele Identifier: CA392377160

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534701A>T (hg19) ; chr15:g.50242504A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242504A>T , CM000677.2:g.50242504A>T	GRCh38
NC_000015.9:g.50534701A>T , CM000677.1:g.50534701A>T	GRCh37
NC_000015.8:g.48321993A>T	NCBI36
NG_027487.1:g.28462T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1745T>A MANE Select	ENSP00000267845.3:p.Val582Glu
ENST00000267845.7:c.1745T>A	ENSP00000267845.3:p.Val582Glu
ENST00000543581.5:c.1646T>A	ENSP00000440252.1:p.Val549Glu
ENST00000559816.1:n.1489T>A
NM_001306146.1:c.1646T>A	NP_001293075.1:p.Val549Glu
NM_002112.3:c.1745T>A	NP_002103.2:p.Val582Glu
XM_011521479.1:c.1508T>A	XP_011519781.1:p.Val503Glu
XM_011521480.1:c.1313T>A	XP_011519782.1:p.Val438Glu
XM_017022094.1:c.1850T>A	XP_016877583.1:p.Val617Glu
XM_017022095.1:c.1751T>A	XP_016877584.1:p.Val584Glu
XM_017022096.1:c.1622T>A	XP_016877585.1:p.Val541Glu
XM_017022097.1:c.1613T>A	XP_016877586.1:p.Val538Glu
XM_017022098.1:c.1418T>A	XP_016877587.1:p.Val473Glu
NM_002112.4:c.1745T>A MANE Select	NP_002103.2:p.Val582Glu
NM_001306146.2:c.1646T>A	NP_001293075.1:p.Val549Glu