Canonical Allele Identifier: CA392376925

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534587T>A (hg19) ; chr15:g.50242390T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242390T>A , CM000677.2:g.50242390T>A	GRCh38
NC_000015.9:g.50534587T>A , CM000677.1:g.50534587T>A	GRCh37
NC_000015.8:g.48321879T>A	NCBI36
NG_027487.1:g.28576A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1859A>T MANE Select	ENSP00000267845.3:p.Glu620Val
ENST00000267845.7:c.1859A>T	ENSP00000267845.3:p.Glu620Val
ENST00000543581.5:c.1760A>T	ENSP00000440252.1:p.Glu587Val
ENST00000559816.1:n.1603A>T
NM_001306146.1:c.1760A>T	NP_001293075.1:p.Glu587Val
NM_002112.3:c.1859A>T	NP_002103.2:p.Glu620Val
XM_011521479.1:c.1622A>T	XP_011519781.1:p.Glu541Val
XM_011521480.1:c.1427A>T	XP_011519782.1:p.Glu476Val
XM_017022094.1:c.1964A>T	XP_016877583.1:p.Glu655Val
XM_017022095.1:c.1865A>T	XP_016877584.1:p.Glu622Val
XM_017022096.1:c.1736A>T	XP_016877585.1:p.Glu579Val
XM_017022097.1:c.1727A>T	XP_016877586.1:p.Glu576Val
XM_017022098.1:c.1532A>T	XP_016877587.1:p.Glu511Val
NM_002112.4:c.1859A>T MANE Select	NP_002103.2:p.Glu620Val
NM_001306146.2:c.1760A>T	NP_001293075.1:p.Glu587Val