Canonical Allele Identifier: CA392377206

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534722A>T (hg19) ; chr15:g.50242525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242525A>T , CM000677.2:g.50242525A>T	GRCh38
NC_000015.9:g.50534722A>T , CM000677.1:g.50534722A>T	GRCh37
NC_000015.8:g.48322014A>T	NCBI36
NG_027487.1:g.28441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1724T>A MANE Select	ENSP00000267845.3:p.Val575Glu
ENST00000267845.7:c.1724T>A	ENSP00000267845.3:p.Val575Glu
ENST00000543581.5:c.1625T>A	ENSP00000440252.1:p.Val542Glu
ENST00000559816.1:n.1468T>A
NM_001306146.1:c.1625T>A	NP_001293075.1:p.Val542Glu
NM_002112.3:c.1724T>A	NP_002103.2:p.Val575Glu
XM_011521479.1:c.1487T>A	XP_011519781.1:p.Val496Glu
XM_011521480.1:c.1292T>A	XP_011519782.1:p.Val431Glu
XM_017022094.1:c.1829T>A	XP_016877583.1:p.Val610Glu
XM_017022095.1:c.1730T>A	XP_016877584.1:p.Val577Glu
XM_017022096.1:c.1601T>A	XP_016877585.1:p.Val534Glu
XM_017022097.1:c.1592T>A	XP_016877586.1:p.Val531Glu
XM_017022098.1:c.1397T>A	XP_016877587.1:p.Val466Glu
NM_002112.4:c.1724T>A MANE Select	NP_002103.2:p.Val575Glu
NM_001306146.2:c.1625T>A	NP_001293075.1:p.Val542Glu