Canonical Allele Identifier: CA392377103

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534674G>T (hg19) ; chr15:g.50242477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242477G>T , CM000677.2:g.50242477G>T	GRCh38
NC_000015.9:g.50534674G>T , CM000677.1:g.50534674G>T	GRCh37
NC_000015.8:g.48321966G>T	NCBI36
NG_027487.1:g.28489C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1772C>A MANE Select	ENSP00000267845.3:p.Pro591Gln
ENST00000267845.7:c.1772C>A	ENSP00000267845.3:p.Pro591Gln
ENST00000543581.5:c.1673C>A	ENSP00000440252.1:p.Pro558Gln
ENST00000559816.1:n.1516C>A
NM_001306146.1:c.1673C>A	NP_001293075.1:p.Pro558Gln
NM_002112.3:c.1772C>A	NP_002103.2:p.Pro591Gln
XM_011521479.1:c.1535C>A	XP_011519781.1:p.Pro512Gln
XM_011521480.1:c.1340C>A	XP_011519782.1:p.Pro447Gln
XM_017022094.1:c.1877C>A	XP_016877583.1:p.Pro626Gln
XM_017022095.1:c.1778C>A	XP_016877584.1:p.Pro593Gln
XM_017022096.1:c.1649C>A	XP_016877585.1:p.Pro550Gln
XM_017022097.1:c.1640C>A	XP_016877586.1:p.Pro547Gln
XM_017022098.1:c.1445C>A	XP_016877587.1:p.Pro482Gln
NM_002112.4:c.1772C>A MANE Select	NP_002103.2:p.Pro591Gln
NM_001306146.2:c.1673C>A	NP_001293075.1:p.Pro558Gln