Canonical Allele Identifier: CA392377088

Gene: HDC

Linked Data

• COSMIC: COSM97949
• MyVariant Identifiers: chr15:g.50534666C>T (hg19) ; chr15:g.50242469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242469C>T , CM000677.2:g.50242469C>T	GRCh38
NC_000015.9:g.50534666C>T , CM000677.1:g.50534666C>T	GRCh37
NC_000015.8:g.48321958C>T	NCBI36
NG_027487.1:g.28497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1780G>A MANE Select	ENSP00000267845.3:p.Ala594Thr
ENST00000267845.7:c.1780G>A	ENSP00000267845.3:p.Ala594Thr
ENST00000543581.5:c.1681G>A	ENSP00000440252.1:p.Ala561Thr
ENST00000559816.1:n.1524G>A
NM_001306146.1:c.1681G>A	NP_001293075.1:p.Ala561Thr
NM_002112.3:c.1780G>A	NP_002103.2:p.Ala594Thr
XM_011521479.1:c.1543G>A	XP_011519781.1:p.Ala515Thr
XM_011521480.1:c.1348G>A	XP_011519782.1:p.Ala450Thr
XM_017022094.1:c.1885G>A	XP_016877583.1:p.Ala629Thr
XM_017022095.1:c.1786G>A	XP_016877584.1:p.Ala596Thr
XM_017022096.1:c.1657G>A	XP_016877585.1:p.Ala553Thr
XM_017022097.1:c.1648G>A	XP_016877586.1:p.Ala550Thr
XM_017022098.1:c.1453G>A	XP_016877587.1:p.Ala485Thr
NM_002112.4:c.1780G>A MANE Select	NP_002103.2:p.Ala594Thr
NM_001306146.2:c.1681G>A	NP_001293075.1:p.Ala561Thr