Canonical Allele Identifier: CA347770

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 161100
• ClinVar RCV Id: RCV000202526 ; RCV000997785 ; RCV004525880 ; RCV004544346
• dbSNP Id: rs763220502
• ExAC: 20:45355523 G / A
• gnomAD v2: 20-45355523-G-A
• gnomAD v3: 20-46726884-G-A
• gnomAD v4: 20-46726884-G-A
• MyVariant Identifiers: chr20:g.45355523G>A (hg19) ; chr20:g.46726884G>A (hg38)
• PubMed: PMID:17163528 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726884G>A , CM000682.2:g.46726884G>A	GRCh38
NC_000020.10:g.45355523G>A , CM000682.1:g.45355523G>A	GRCh37
NC_000020.9:g.44788930G>A	NCBI36
NG_016284.1:g.22245G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1309G>A MANE Select	ENSP00000352216.2:p.Glu437Lys
ENST00000359271.3:c.1309G>A	ENSP00000352216.2:p.Glu437Lys
NM_030777.3:c.1309G>A	NP_110404.1:p.Glu437Lys
XM_011529060.1:c.1372G>A	XP_011527362.1:p.Glu458Lys
XM_011529061.1:c.1318G>A	XP_011527363.1:p.Glu440Lys
XM_011529062.1:c.1421G>A	XP_011527364.1:p.Arg474Gln
XM_011529063.1:c.1372G>A	XP_011527365.1:p.Glu458Lys
XM_011529064.1:c.1421G>A	XP_011527366.1:p.Arg474Gln
XM_011529065.1:c.1372G>A	XP_011527367.1:p.Glu458Lys
XR_936641.1:n.1557G>A
XM_011529060.2:c.1372G>A	XP_011527362.1:p.Glu458Lys
XM_011529061.2:c.1318G>A	XP_011527363.1:p.Glu440Lys
XM_011529062.2:c.1421G>A	XP_011527364.1:p.Arg474Gln
XM_011529063.2:c.1372G>A	XP_011527365.1:p.Glu458Lys
XM_011529064.2:c.1421G>A	XP_011527366.1:p.Arg474Gln
XM_011529065.2:c.1372G>A	XP_011527367.1:p.Glu458Lys
XM_017028087.2:c.1309G>A	XP_016883576.1:p.Glu437Lys
XR_936641.2:n.1544G>A
NM_030777.4:c.1309G>A MANE Select	NP_110404.1:p.Glu437Lys