Canonical Allele Identifier: CA9891920

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1359978
• ClinVar RCV Id: RCV001904642
• dbSNP Id: rs756331165
• ExAC: 20:45353812 A / G
• gnomAD v2: 20-45353812-A-G
• gnomAD v4: 20-46725173-A-G
• MyVariant Identifiers: chr20:g.45353812A>G (hg19) ; chr20:g.46725173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725173A>G , CM000682.2:g.46725173A>G	GRCh38
NC_000020.10:g.45353812A>G , CM000682.1:g.45353812A>G	GRCh37
NC_000020.9:g.44787219A>G	NCBI36
NG_016284.1:g.20534A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.137A>G MANE Select	ENSP00000352216.2:p.Glu46Gly
ENST00000359271.3:c.137A>G	ENSP00000352216.2:p.Glu46Gly
ENST00000611837.1:n.289A>G
NM_030777.3:c.137A>G	NP_110404.1:p.Glu46Gly
XM_011529060.1:c.200A>G	XP_011527362.1:p.Glu67Gly
XM_011529061.1:c.146A>G	XP_011527363.1:p.Glu49Gly
XM_011529062.1:c.200A>G	XP_011527364.1:p.Glu67Gly
XM_011529063.1:c.200A>G	XP_011527365.1:p.Glu67Gly
XM_011529064.1:c.200A>G	XP_011527366.1:p.Glu67Gly
XM_011529065.1:c.200A>G	XP_011527367.1:p.Glu67Gly
XR_936641.1:n.336A>G
XM_011529060.2:c.200A>G	XP_011527362.1:p.Glu67Gly
XM_011529061.2:c.146A>G	XP_011527363.1:p.Glu49Gly
XM_011529062.2:c.200A>G	XP_011527364.1:p.Glu67Gly
XM_011529063.2:c.200A>G	XP_011527365.1:p.Glu67Gly
XM_011529064.2:c.200A>G	XP_011527366.1:p.Glu67Gly
XM_011529065.2:c.200A>G	XP_011527367.1:p.Glu67Gly
XM_017028087.2:c.137A>G	XP_016883576.1:p.Glu46Gly
XR_936641.2:n.323A>G
NM_030777.4:c.137A>G MANE Select	NP_110404.1:p.Glu46Gly