Canonical Allele Identifier: CA340266

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 4588
• ClinVar RCV Id: RCV000004850 ; RCV000498947 ; RCV003914808
• dbSNP Id: rs80358230
• gnomAD v4: 20-46725279-C-G
• MyVariant Identifiers: chr20:g.45353918C>G (hg19) ; chr20:g.46725279C>G (hg38)
• PubMed: PMID:12801113 ; PMID:16550171 ; PMID:18565096 ; PMID:18774132 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725279C>G , CM000682.2:g.46725279C>G	GRCh38
NC_000020.10:g.45353918C>G , CM000682.1:g.45353918C>G	GRCh37
NC_000020.9:g.44787325C>G	NCBI36
NG_016284.1:g.20640C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.243C>G MANE Select	ENSP00000352216.2:p.Ser81Arg
ENST00000359271.3:c.243C>G	ENSP00000352216.2:p.Ser81Arg
ENST00000611837.1:n.395C>G
NM_030777.3:c.243C>G	NP_110404.1:p.Ser81Arg
XM_011529060.1:c.306C>G	XP_011527362.1:p.Ser102Arg
XM_011529061.1:c.252C>G	XP_011527363.1:p.Ser84Arg
XM_011529062.1:c.306C>G	XP_011527364.1:p.Ser102Arg
XM_011529063.1:c.306C>G	XP_011527365.1:p.Ser102Arg
XM_011529064.1:c.306C>G	XP_011527366.1:p.Ser102Arg
XM_011529065.1:c.306C>G	XP_011527367.1:p.Ser102Arg
XR_936641.1:n.442C>G
XM_011529060.2:c.306C>G	XP_011527362.1:p.Ser102Arg
XM_011529061.2:c.252C>G	XP_011527363.1:p.Ser84Arg
XM_011529062.2:c.306C>G	XP_011527364.1:p.Ser102Arg
XM_011529063.2:c.306C>G	XP_011527365.1:p.Ser102Arg
XM_011529064.2:c.306C>G	XP_011527366.1:p.Ser102Arg
XM_011529065.2:c.306C>G	XP_011527367.1:p.Ser102Arg
XM_017028087.2:c.243C>G	XP_016883576.1:p.Ser81Arg
XR_936641.2:n.429C>G
NM_030777.4:c.243C>G MANE Select	NP_110404.1:p.Ser81Arg