Canonical Allele Identifier: CA392377132

Gene: HDC

Linked Data

• COSMIC: COSM3401802
• MyVariant Identifiers: chr15:g.50534686C>A (hg19) ; chr15:g.50242489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242489C>A , CM000677.2:g.50242489C>A	GRCh38
NC_000015.9:g.50534686C>A , CM000677.1:g.50534686C>A	GRCh37
NC_000015.8:g.48321978C>A	NCBI36
NG_027487.1:g.28477G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1760G>T MANE Select	ENSP00000267845.3:p.Cys587Phe
ENST00000267845.7:c.1760G>T	ENSP00000267845.3:p.Cys587Phe
ENST00000543581.5:c.1661G>T	ENSP00000440252.1:p.Cys554Phe
ENST00000559816.1:n.1504G>T
NM_001306146.1:c.1661G>T	NP_001293075.1:p.Cys554Phe
NM_002112.3:c.1760G>T	NP_002103.2:p.Cys587Phe
XM_011521479.1:c.1523G>T	XP_011519781.1:p.Cys508Phe
XM_011521480.1:c.1328G>T	XP_011519782.1:p.Cys443Phe
XM_017022094.1:c.1865G>T	XP_016877583.1:p.Cys622Phe
XM_017022095.1:c.1766G>T	XP_016877584.1:p.Cys589Phe
XM_017022096.1:c.1637G>T	XP_016877585.1:p.Cys546Phe
XM_017022097.1:c.1628G>T	XP_016877586.1:p.Cys543Phe
XM_017022098.1:c.1433G>T	XP_016877587.1:p.Cys478Phe
NM_002112.4:c.1760G>T MANE Select	NP_002103.2:p.Cys587Phe
NM_001306146.2:c.1661G>T	NP_001293075.1:p.Cys554Phe