Canonical Allele Identifier: CA392377157

Gene: HDC

Linked Data

• gnomAD v4: 15-50242502-G-C
• MyVariant Identifiers: chr15:g.50534699G>C (hg19) ; chr15:g.50242502G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267845.8:c.1747C>G MANE Select	ENSP00000267845.3:p.Arg583Gly
ENST00000267845.7:c.1747C>G	ENSP00000267845.3:p.Arg583Gly
ENST00000543581.5:c.1648C>G	ENSP00000440252.1:p.Arg550Gly
ENST00000559816.1:n.1491C>G
NM_001306146.1:c.1648C>G	NP_001293075.1:p.Arg550Gly
NM_002112.3:c.1747C>G	NP_002103.2:p.Arg583Gly
XM_011521479.1:c.1510C>G	XP_011519781.1:p.Arg504Gly
XM_011521480.1:c.1315C>G	XP_011519782.1:p.Arg439Gly
XM_017022094.1:c.1852C>G	XP_016877583.1:p.Arg618Gly
XM_017022095.1:c.1753C>G	XP_016877584.1:p.Arg585Gly
XM_017022096.1:c.1624C>G	XP_016877585.1:p.Arg542Gly
XM_017022097.1:c.1615C>G	XP_016877586.1:p.Arg539Gly
XM_017022098.1:c.1420C>G	XP_016877587.1:p.Arg474Gly
NM_002112.4:c.1747C>G MANE Select	NP_002103.2:p.Arg583Gly
NM_001306146.2:c.1648C>G	NP_001293075.1:p.Arg550Gly