Canonical Allele Identifier: CA9892078

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 380352
• ClinVar RCV Id: RCV000475316 ; RCV001703590 ; RCV002374646
• dbSNP Id: rs372596900
• ExAC: 20:45354636 G / A
• gnomAD v2: 20-45354636-G-A
• gnomAD v3: 20-46725997-G-A
• gnomAD v4: 20-46725997-G-A
• COSMIC: COSM1027499
• MyVariant Identifiers: chr20:g.45354636G>A (hg19) ; chr20:g.46725997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725997G>A , CM000682.2:g.46725997G>A	GRCh38
NC_000020.10:g.45354636G>A , CM000682.1:g.45354636G>A	GRCh37
NC_000020.9:g.44788043G>A	NCBI36
NG_016284.1:g.21358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.961G>A MANE Select	ENSP00000352216.2:p.Val321Met
ENST00000359271.3:c.961G>A	ENSP00000352216.2:p.Val321Met
NM_030777.3:c.961G>A	NP_110404.1:p.Val321Met
XM_011529060.1:c.1024G>A	XP_011527362.1:p.Val342Met
XM_011529061.1:c.970G>A	XP_011527363.1:p.Val324Met
XM_011529062.1:c.1024G>A	XP_011527364.1:p.Val342Met
XM_011529063.1:c.1024G>A	XP_011527365.1:p.Val342Met
XM_011529064.1:c.1024G>A	XP_011527366.1:p.Val342Met
XM_011529065.1:c.1024G>A	XP_011527367.1:p.Val342Met
XR_936641.1:n.1160G>A
XM_011529060.2:c.1024G>A	XP_011527362.1:p.Val342Met
XM_011529061.2:c.970G>A	XP_011527363.1:p.Val324Met
XM_011529062.2:c.1024G>A	XP_011527364.1:p.Val342Met
XM_011529063.2:c.1024G>A	XP_011527365.1:p.Val342Met
XM_011529064.2:c.1024G>A	XP_011527366.1:p.Val342Met
XM_011529065.2:c.1024G>A	XP_011527367.1:p.Val342Met
XM_017028087.2:c.961G>A	XP_016883576.1:p.Val321Met
XR_936641.2:n.1147G>A
NM_030777.4:c.961G>A MANE Select	NP_110404.1:p.Val321Met