Canonical Allele Identifier: CA392377256

Gene: HDC

Linked Data

• MyVariant Identifiers: chr15:g.50534744A>T (hg19) ; chr15:g.50242547A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242547A>T , CM000677.2:g.50242547A>T	GRCh38
NC_000015.9:g.50534744A>T , CM000677.1:g.50534744A>T	GRCh37
NC_000015.8:g.48322036A>T	NCBI36
NG_027487.1:g.28419T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1702T>A MANE Select	ENSP00000267845.3:p.Phe568Ile
ENST00000267845.7:c.1702T>A	ENSP00000267845.3:p.Phe568Ile
ENST00000543581.5:c.1603T>A	ENSP00000440252.1:p.Phe535Ile
ENST00000559816.1:n.1446T>A
NM_001306146.1:c.1603T>A	NP_001293075.1:p.Phe535Ile
NM_002112.3:c.1702T>A	NP_002103.2:p.Phe568Ile
XM_011521479.1:c.1465T>A	XP_011519781.1:p.Phe489Ile
XM_011521480.1:c.1270T>A	XP_011519782.1:p.Phe424Ile
XM_017022094.1:c.1807T>A	XP_016877583.1:p.Phe603Ile
XM_017022095.1:c.1708T>A	XP_016877584.1:p.Phe570Ile
XM_017022096.1:c.1579T>A	XP_016877585.1:p.Phe527Ile
XM_017022097.1:c.1570T>A	XP_016877586.1:p.Phe524Ile
XM_017022098.1:c.1375T>A	XP_016877587.1:p.Phe459Ile
NM_002112.4:c.1702T>A MANE Select	NP_002103.2:p.Phe568Ile
NM_001306146.2:c.1603T>A	NP_001293075.1:p.Phe535Ile