Canonical Allele Identifier: CA9892137

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 467812
• ClinVar RCV Id: RCV000549142 ; RCV001584292 ; RCV004024041
• dbSNP Id: rs746203433
• ExAC: 20:45354909 G / A
• gnomAD v2: 20-45354909-G-A
• gnomAD v3: 20-46726270-G-A
• gnomAD v4: 20-46726270-G-A
• COSMIC: COSM4099051
• MyVariant Identifiers: chr20:g.45354909G>A (hg19) ; chr20:g.46726270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726270G>A , CM000682.2:g.46726270G>A	GRCh38
NC_000020.10:g.45354909G>A , CM000682.1:g.45354909G>A	GRCh37
NC_000020.9:g.44788316G>A	NCBI36
NG_016284.1:g.21631G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1234G>A MANE Select	ENSP00000352216.2:p.Ala412Thr
ENST00000359271.3:c.1234G>A	ENSP00000352216.2:p.Ala412Thr
NM_030777.3:c.1234G>A	NP_110404.1:p.Ala412Thr
XM_011529060.1:c.1297G>A	XP_011527362.1:p.Ala433Thr
XM_011529061.1:c.1243G>A	XP_011527363.1:p.Ala415Thr
XM_011529062.1:c.1297G>A	XP_011527364.1:p.Ala433Thr
XM_011529063.1:c.1297G>A	XP_011527365.1:p.Ala433Thr
XM_011529064.1:c.1297G>A	XP_011527366.1:p.Ala433Thr
XM_011529065.1:c.1297G>A	XP_011527367.1:p.Ala433Thr
XR_936641.1:n.1433G>A
XM_011529060.2:c.1297G>A	XP_011527362.1:p.Ala433Thr
XM_011529061.2:c.1243G>A	XP_011527363.1:p.Ala415Thr
XM_011529062.2:c.1297G>A	XP_011527364.1:p.Ala433Thr
XM_011529063.2:c.1297G>A	XP_011527365.1:p.Ala433Thr
XM_011529064.2:c.1297G>A	XP_011527366.1:p.Ala433Thr
XM_011529065.2:c.1297G>A	XP_011527367.1:p.Ala433Thr
XM_017028087.2:c.1234G>A	XP_016883576.1:p.Ala412Thr
XR_936641.2:n.1420G>A
NM_030777.4:c.1234G>A MANE Select	NP_110404.1:p.Ala412Thr