Canonical Allele Identifier: CA392377242

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534737A>T (hg19) ; chr15:g.50242540A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242540A>T , CM000677.2:g.50242540A>T	GRCh38
NC_000015.9:g.50534737A>T , CM000677.1:g.50534737A>T	GRCh37
NC_000015.8:g.48322029A>T	NCBI36
NG_027487.1:g.28426T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1709T>A MANE Select	ENSP00000267845.3:p.Phe570Tyr
ENST00000267845.7:c.1709T>A	ENSP00000267845.3:p.Phe570Tyr
ENST00000543581.5:c.1610T>A	ENSP00000440252.1:p.Phe537Tyr
ENST00000559816.1:n.1453T>A
NM_001306146.1:c.1610T>A	NP_001293075.1:p.Phe537Tyr
NM_002112.3:c.1709T>A	NP_002103.2:p.Phe570Tyr
XM_011521479.1:c.1472T>A	XP_011519781.1:p.Phe491Tyr
XM_011521480.1:c.1277T>A	XP_011519782.1:p.Phe426Tyr
XM_017022094.1:c.1814T>A	XP_016877583.1:p.Phe605Tyr
XM_017022095.1:c.1715T>A	XP_016877584.1:p.Phe572Tyr
XM_017022096.1:c.1586T>A	XP_016877585.1:p.Phe529Tyr
XM_017022097.1:c.1577T>A	XP_016877586.1:p.Phe526Tyr
XM_017022098.1:c.1382T>A	XP_016877587.1:p.Phe461Tyr
NM_002112.4:c.1709T>A MANE Select	NP_002103.2:p.Phe570Tyr
NM_001306146.2:c.1610T>A	NP_001293075.1:p.Phe537Tyr