Canonical Allele Identifier: CA346910

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 161097
• ClinVar RCV Id: RCV000185549 ; RCV000251075
• dbSNP Id: rs771028960
• ExAC: 20:45354367 G / A
• gnomAD v2: 20-45354367-G-A
• gnomAD v3: 20-46725728-G-A
• gnomAD v4: 20-46725728-G-A
• MyVariant Identifiers: chr20:g.45354367G>A (hg19) ; chr20:g.46725728G>A (hg38)
• PubMed: PMID:17935213 ; PMID:19781076 ; PMID:23494979 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725728G>A , CM000682.2:g.46725728G>A	GRCh38
NC_000020.10:g.45354367G>A , CM000682.1:g.45354367G>A	GRCh37
NC_000020.9:g.44787774G>A	NCBI36
NG_016284.1:g.21089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.692G>A MANE Select	ENSP00000352216.2:p.Arg231Gln
ENST00000359271.3:c.692G>A	ENSP00000352216.2:p.Arg231Gln
NM_030777.3:c.692G>A	NP_110404.1:p.Arg231Gln
XM_011529060.1:c.755G>A	XP_011527362.1:p.Arg252Gln
XM_011529061.1:c.701G>A	XP_011527363.1:p.Arg234Gln
XM_011529062.1:c.755G>A	XP_011527364.1:p.Arg252Gln
XM_011529063.1:c.755G>A	XP_011527365.1:p.Arg252Gln
XM_011529064.1:c.755G>A	XP_011527366.1:p.Arg252Gln
XM_011529065.1:c.755G>A	XP_011527367.1:p.Arg252Gln
XR_936641.1:n.891G>A
XM_011529060.2:c.755G>A	XP_011527362.1:p.Arg252Gln
XM_011529061.2:c.701G>A	XP_011527363.1:p.Arg234Gln
XM_011529062.2:c.755G>A	XP_011527364.1:p.Arg252Gln
XM_011529063.2:c.755G>A	XP_011527365.1:p.Arg252Gln
XM_011529064.2:c.755G>A	XP_011527366.1:p.Arg252Gln
XM_011529065.2:c.755G>A	XP_011527367.1:p.Arg252Gln
XM_017028087.2:c.692G>A	XP_016883576.1:p.Arg231Gln
XR_936641.2:n.878G>A
NM_030777.4:c.692G>A MANE Select	NP_110404.1:p.Arg231Gln