Canonical Allele Identifier: CA409271941

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 2193284
• ClinVar RCV Id: RCV002643955
• dbSNP Id: rs1224390882
• gnomAD v3: 20-46726920-G-A
• gnomAD v4: 20-46726920-G-A
• COSMIC: COSM1226230
• MyVariant Identifiers: chr20:g.45355559G>A (hg19) ; chr20:g.46726920G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726920G>A , CM000682.2:g.46726920G>A	GRCh38
NC_000020.10:g.45355559G>A , CM000682.1:g.45355559G>A	GRCh37
NC_000020.9:g.44788966G>A	NCBI36
NG_016284.1:g.22281G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1345G>A MANE Select	ENSP00000352216.2:p.Ala449Thr
ENST00000359271.3:c.1345G>A	ENSP00000352216.2:p.Ala449Thr
NM_030777.3:c.1345G>A	NP_110404.1:p.Ala449Thr
XM_011529060.1:c.1408G>A	XP_011527362.1:p.Ala470Thr
XM_011529061.1:c.1354G>A	XP_011527363.1:p.Ala452Thr
XM_011529062.1:c.1457G>A	XP_011527364.1:p.Arg486His
XM_011529063.1:c.1408G>A	XP_011527365.1:p.Ala470Thr
XM_011529064.1:c.1457G>A	XP_011527366.1:p.Arg486His
XM_011529065.1:c.1408G>A	XP_011527367.1:p.Ala470Thr
XR_936641.1:n.1593G>A
XM_011529060.2:c.1408G>A	XP_011527362.1:p.Ala470Thr
XM_011529061.2:c.1354G>A	XP_011527363.1:p.Ala452Thr
XM_011529062.2:c.1457G>A	XP_011527364.1:p.Arg486His
XM_011529063.2:c.1408G>A	XP_011527365.1:p.Ala470Thr
XM_011529064.2:c.1457G>A	XP_011527366.1:p.Arg486His
XM_011529065.2:c.1408G>A	XP_011527367.1:p.Ala470Thr
XM_017028087.2:c.1345G>A	XP_016883576.1:p.Ala449Thr
XR_936641.2:n.1580G>A
NM_030777.4:c.1345G>A MANE Select	NP_110404.1:p.Ala449Thr