Canonical Allele Identifier: CA302822

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 139172
• ClinVar RCV Id: RCV000175951 ; RCV000355944 ; RCV002310711
• dbSNP Id: rs2235491
• ExAC: 20:45354291 G / A
• gnomAD v2: 20-45354291-G-A
• gnomAD v3: 20-46725652-G-A
• gnomAD v4: 20-46725652-G-A
• MyVariant Identifiers: chr20:g.45354291G>A (hg19) ; chr20:g.46725652G>A (hg38)
• PubMed: PMID:12941788 ; PMID:15975113

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725652G>A , CM000682.2:g.46725652G>A	GRCh38
NC_000020.10:g.45354291G>A , CM000682.1:g.45354291G>A	GRCh37
NC_000020.9:g.44787698G>A	NCBI36
NG_016284.1:g.21013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.616G>A MANE Select	ENSP00000352216.2:p.Ala206Thr
ENST00000359271.3:c.616G>A	ENSP00000352216.2:p.Ala206Thr
NM_030777.3:c.616G>A	NP_110404.1:p.Ala206Thr
XM_011529060.1:c.679G>A	XP_011527362.1:p.Ala227Thr
XM_011529061.1:c.625G>A	XP_011527363.1:p.Ala209Thr
XM_011529062.1:c.679G>A	XP_011527364.1:p.Ala227Thr
XM_011529063.1:c.679G>A	XP_011527365.1:p.Ala227Thr
XM_011529064.1:c.679G>A	XP_011527366.1:p.Ala227Thr
XM_011529065.1:c.679G>A	XP_011527367.1:p.Ala227Thr
XR_936641.1:n.815G>A
XM_011529060.2:c.679G>A	XP_011527362.1:p.Ala227Thr
XM_011529061.2:c.625G>A	XP_011527363.1:p.Ala209Thr
XM_011529062.2:c.679G>A	XP_011527364.1:p.Ala227Thr
XM_011529063.2:c.679G>A	XP_011527365.1:p.Ala227Thr
XM_011529064.2:c.679G>A	XP_011527366.1:p.Ala227Thr
XM_011529065.2:c.679G>A	XP_011527367.1:p.Ala227Thr
XM_017028087.2:c.616G>A	XP_016883576.1:p.Ala206Thr
XR_936641.2:n.802G>A
NM_030777.4:c.616G>A MANE Select	NP_110404.1:p.Ala206Thr