Canonical Allele Identifier: CA347716

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 161095
• ClinVar RCV Id: RCV000202463
• dbSNP Id: rs572620317
• ExAC: 20:45354092 T / A
• gnomAD v2: 20-45354092-T-A
• gnomAD v4: 20-46725453-T-A
• MyVariant Identifiers: chr20:g.45354092T>A (hg19) ; chr20:g.46725453T>A (hg38)
• PubMed: PMID:23494979 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725453T>A , CM000682.2:g.46725453T>A	GRCh38
NC_000020.10:g.45354092T>A , CM000682.1:g.45354092T>A	GRCh37
NC_000020.9:g.44787499T>A	NCBI36
NG_016284.1:g.20814T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.417T>A MANE Select	ENSP00000352216.2:p.Tyr139Ter
ENST00000359271.3:c.417T>A	ENSP00000352216.2:p.Tyr139Ter
ENST00000611837.1:n.569T>A
NM_030777.3:c.417T>A	NP_110404.1:p.Tyr139Ter
XM_011529060.1:c.480T>A	XP_011527362.1:p.Tyr160Ter
XM_011529061.1:c.426T>A	XP_011527363.1:p.Tyr142Ter
XM_011529062.1:c.480T>A	XP_011527364.1:p.Tyr160Ter
XM_011529063.1:c.480T>A	XP_011527365.1:p.Tyr160Ter
XM_011529064.1:c.480T>A	XP_011527366.1:p.Tyr160Ter
XM_011529065.1:c.480T>A	XP_011527367.1:p.Tyr160Ter
XR_936641.1:n.616T>A
XM_011529060.2:c.480T>A	XP_011527362.1:p.Tyr160Ter
XM_011529061.2:c.426T>A	XP_011527363.1:p.Tyr142Ter
XM_011529062.2:c.480T>A	XP_011527364.1:p.Tyr160Ter
XM_011529063.2:c.480T>A	XP_011527365.1:p.Tyr160Ter
XM_011529064.2:c.480T>A	XP_011527366.1:p.Tyr160Ter
XM_011529065.2:c.480T>A	XP_011527367.1:p.Tyr160Ter
XM_017028087.2:c.417T>A	XP_016883576.1:p.Tyr139Ter
XR_936641.2:n.603T>A
NM_030777.4:c.417T>A MANE Select	NP_110404.1:p.Tyr139Ter