Canonical Allele Identifier: CA320171

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213712
• ClinVar RCV Id: RCV000687656 ; RCV000756648 ; RCV002321791 ; RCV003488452
• dbSNP Id: rs6094438
• ExAC: 20:45353991 G / A
• gnomAD v2: 20-45353991-G-A
• gnomAD v3: 20-46725352-G-A
• gnomAD v4: 20-46725352-G-A
• MyVariant Identifiers: chr20:g.45353991G>A (hg19) ; chr20:g.46725352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725352G>A , CM000682.2:g.46725352G>A	GRCh38
NC_000020.10:g.45353991G>A , CM000682.1:g.45353991G>A	GRCh37
NC_000020.9:g.44787398G>A	NCBI36
NG_016284.1:g.20713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.316G>A MANE Select	ENSP00000352216.2:p.Ala106Thr
ENST00000359271.3:c.316G>A	ENSP00000352216.2:p.Ala106Thr
ENST00000611837.1:n.468G>A
NM_030777.3:c.316G>A	NP_110404.1:p.Ala106Thr
XM_011529060.1:c.379G>A	XP_011527362.1:p.Ala127Thr
XM_011529061.1:c.325G>A	XP_011527363.1:p.Ala109Thr
XM_011529062.1:c.379G>A	XP_011527364.1:p.Ala127Thr
XM_011529063.1:c.379G>A	XP_011527365.1:p.Ala127Thr
XM_011529064.1:c.379G>A	XP_011527366.1:p.Ala127Thr
XM_011529065.1:c.379G>A	XP_011527367.1:p.Ala127Thr
XR_936641.1:n.515G>A
XM_011529060.2:c.379G>A	XP_011527362.1:p.Ala127Thr
XM_011529061.2:c.325G>A	XP_011527363.1:p.Ala109Thr
XM_011529062.2:c.379G>A	XP_011527364.1:p.Ala127Thr
XM_011529063.2:c.379G>A	XP_011527365.1:p.Ala127Thr
XM_011529064.2:c.379G>A	XP_011527366.1:p.Ala127Thr
XM_011529065.2:c.379G>A	XP_011527367.1:p.Ala127Thr
XM_017028087.2:c.316G>A	XP_016883576.1:p.Ala106Thr
XR_936641.2:n.502G>A
NM_030777.4:c.316G>A MANE Select	NP_110404.1:p.Ala106Thr