Canonical Allele Identifier: CA392377040

Gene: HDC

Linked Data

• gnomAD v4: 15-50242445-C-T
• COSMIC: COSM962533
• MyVariant Identifiers: chr15:g.50534642C>T (hg19) ; chr15:g.50242445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242445C>T , CM000677.2:g.50242445C>T	GRCh38
NC_000015.9:g.50534642C>T , CM000677.1:g.50534642C>T	GRCh37
NC_000015.8:g.48321934C>T	NCBI36
NG_027487.1:g.28521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1804G>A MANE Select	ENSP00000267845.3:p.Ala602Thr
ENST00000267845.7:c.1804G>A	ENSP00000267845.3:p.Ala602Thr
ENST00000543581.5:c.1705G>A	ENSP00000440252.1:p.Ala569Thr
ENST00000559816.1:n.1548G>A
NM_001306146.1:c.1705G>A	NP_001293075.1:p.Ala569Thr
NM_002112.3:c.1804G>A	NP_002103.2:p.Ala602Thr
XM_011521479.1:c.1567G>A	XP_011519781.1:p.Ala523Thr
XM_011521480.1:c.1372G>A	XP_011519782.1:p.Ala458Thr
XM_017022094.1:c.1909G>A	XP_016877583.1:p.Ala637Thr
XM_017022095.1:c.1810G>A	XP_016877584.1:p.Ala604Thr
XM_017022096.1:c.1681G>A	XP_016877585.1:p.Ala561Thr
XM_017022097.1:c.1672G>A	XP_016877586.1:p.Ala558Thr
XM_017022098.1:c.1477G>A	XP_016877587.1:p.Ala493Thr
NM_002112.4:c.1804G>A MANE Select	NP_002103.2:p.Ala602Thr
NM_001306146.2:c.1705G>A	NP_001293075.1:p.Ala569Thr