Canonical Allele Identifier: CA392377196

Gene: HDC

Linked Data

• dbSNP Id: rs2045410113
• gnomAD v3: 15-50242521-C-A
• gnomAD v4: 15-50242521-C-A
• MyVariant Identifiers: chr15:g.50534718C>A (hg19) ; chr15:g.50242521C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242521C>A , CM000677.2:g.50242521C>A	GRCh38
NC_000015.9:g.50534718C>A , CM000677.1:g.50534718C>A	GRCh37
NC_000015.8:g.48322010C>A	NCBI36
NG_027487.1:g.28445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1728G>T MANE Select	ENSP00000267845.3:p.Gln576His
ENST00000267845.7:c.1728G>T	ENSP00000267845.3:p.Gln576His
ENST00000543581.5:c.1629G>T	ENSP00000440252.1:p.Gln543His
ENST00000559816.1:n.1472G>T
NM_001306146.1:c.1629G>T	NP_001293075.1:p.Gln543His
NM_002112.3:c.1728G>T	NP_002103.2:p.Gln576His
XM_011521479.1:c.1491G>T	XP_011519781.1:p.Gln497His
XM_011521480.1:c.1296G>T	XP_011519782.1:p.Gln432His
XM_017022094.1:c.1833G>T	XP_016877583.1:p.Gln611His
XM_017022095.1:c.1734G>T	XP_016877584.1:p.Gln578His
XM_017022096.1:c.1605G>T	XP_016877585.1:p.Gln535His
XM_017022097.1:c.1596G>T	XP_016877586.1:p.Gln532His
XM_017022098.1:c.1401G>T	XP_016877587.1:p.Gln467His
NM_002112.4:c.1728G>T MANE Select	NP_002103.2:p.Gln576His
NM_001306146.2:c.1629G>T	NP_001293075.1:p.Gln543His