Canonical Allele Identifier: CA392377307

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534769A>T (hg19) ; chr15:g.50242572A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242572A>T , CM000677.2:g.50242572A>T	GRCh38
NC_000015.9:g.50534769A>T , CM000677.1:g.50534769A>T	GRCh37
NC_000015.8:g.48322061A>T	NCBI36
NG_027487.1:g.28394T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1677T>A MANE Select	ENSP00000267845.3:p.Asp559Glu
ENST00000267845.7:c.1677T>A	ENSP00000267845.3:p.Asp559Glu
ENST00000543581.5:c.1578T>A	ENSP00000440252.1:p.Asp526Glu
ENST00000559816.1:n.1421T>A
NM_001306146.1:c.1578T>A	NP_001293075.1:p.Asp526Glu
NM_002112.3:c.1677T>A	NP_002103.2:p.Asp559Glu
XM_011521479.1:c.1440T>A	XP_011519781.1:p.Asp480Glu
XM_011521480.1:c.1245T>A	XP_011519782.1:p.Asp415Glu
XM_017022094.1:c.1782T>A	XP_016877583.1:p.Asp594Glu
XM_017022095.1:c.1683T>A	XP_016877584.1:p.Asp561Glu
XM_017022096.1:c.1554T>A	XP_016877585.1:p.Asp518Glu
XM_017022097.1:c.1545T>A	XP_016877586.1:p.Asp515Glu
XM_017022098.1:c.1350T>A	XP_016877587.1:p.Asp450Glu
NM_002112.4:c.1677T>A MANE Select	NP_002103.2:p.Asp559Glu
NM_001306146.2:c.1578T>A	NP_001293075.1:p.Asp526Glu