Canonical Allele Identifier: CA490314208

Gene: HDC

Linked Data

• COSMIC: COSM3887100
• MyVariant Identifiers: chr15:g.50534736G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242539G>A , CM000677.2:g.50242539G>A	GRCh38
NC_000015.9:g.50534736G>A , CM000677.1:g.50534736G>A	GRCh37
NC_000015.8:g.48322028G>A	NCBI36
NG_027487.1:g.28427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1710C>T MANE Select	ENSP00000267845.3:p.Phe570=
ENST00000267845.7:c.1710C>T	ENSP00000267845.3:p.Phe570=
ENST00000543581.5:c.1611C>T	ENSP00000440252.1:p.Phe537=
ENST00000559816.1:n.1454C>T
NM_001306146.1:c.1611C>T	NP_001293075.1:p.Phe537=
NM_002112.3:c.1710C>T	NP_002103.2:p.Phe570=
XM_011521479.1:c.1473C>T	XP_011519781.1:p.Phe491=
XM_011521480.1:c.1278C>T	XP_011519782.1:p.Phe426=
XM_017022094.1:c.1815C>T	XP_016877583.1:p.Phe605=
XM_017022095.1:c.1716C>T	XP_016877584.1:p.Phe572=
XM_017022096.1:c.1587C>T	XP_016877585.1:p.Phe529=
XM_017022097.1:c.1578C>T	XP_016877586.1:p.Phe526=
XM_017022098.1:c.1383C>T	XP_016877587.1:p.Phe461=
NM_002112.4:c.1710C>T MANE Select	NP_002103.2:p.Phe570=
NM_001306146.2:c.1611C>T	NP_001293075.1:p.Phe537=