Canonical Allele Identifier: CA270413950

Gene: HDC

Linked Data

• dbSNP Id: rs745852282
• gnomAD v2: 15-50534699-G-A
• gnomAD v4: 15-50242502-G-A
• MyVariant Identifiers: chr15:g.50534699G>A (hg19) ; chr15:g.50242502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242502G>A , CM000677.2:g.50242502G>A	GRCh38
NC_000015.9:g.50534699G>A , CM000677.1:g.50534699G>A	GRCh37
NC_000015.8:g.48321991G>A	NCBI36
NG_027487.1:g.28464C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1747C>T MANE Select	ENSP00000267845.3:p.Arg583Cys
ENST00000267845.7:c.1747C>T	ENSP00000267845.3:p.Arg583Cys
ENST00000543581.5:c.1648C>T	ENSP00000440252.1:p.Arg550Cys
ENST00000559816.1:n.1491C>T
NM_001306146.1:c.1648C>T	NP_001293075.1:p.Arg550Cys
NM_002112.3:c.1747C>T	NP_002103.2:p.Arg583Cys
XM_011521479.1:c.1510C>T	XP_011519781.1:p.Arg504Cys
XM_011521480.1:c.1315C>T	XP_011519782.1:p.Arg439Cys
XM_017022094.1:c.1852C>T	XP_016877583.1:p.Arg618Cys
XM_017022095.1:c.1753C>T	XP_016877584.1:p.Arg585Cys
XM_017022096.1:c.1624C>T	XP_016877585.1:p.Arg542Cys
XM_017022097.1:c.1615C>T	XP_016877586.1:p.Arg539Cys
XM_017022098.1:c.1420C>T	XP_016877587.1:p.Arg474Cys
NM_002112.4:c.1747C>T MANE Select	NP_002103.2:p.Arg583Cys
NM_001306146.2:c.1648C>T	NP_001293075.1:p.Arg550Cys