Canonical Allele Identifier: CA9892173

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 261937
• ClinVar RCV Id: RCV000242462 ; RCV000864839 ; RCV001461613
• dbSNP Id: rs558894862
• ExAC: 20:45355585 G / A
• gnomAD: 20:45355585 G / A
• COSMIC: COSM3770823
• MyVariant Identifiers: chr20:g.45355585G>A (hg19) ; chr20:g.46726946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726946G>A , CM000682.2:g.46726946G>A	GRCh38
NC_000020.10:g.45355585G>A , CM000682.1:g.45355585G>A	GRCh37
NC_000020.9:g.44788992G>A	NCBI36
NG_016284.1:g.22307G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.1371G>A MANE Select	ENSP00000352216.2:p.Ala457=
ENST00000359271.3:c.1371G>A	ENSP00000352216.2:p.Ala457=
NM_030777.3:c.1371G>A	NP_110404.1:p.Ala457=
XM_011529060.1:c.1434G>A	XP_011527362.1:p.Ala478=
XM_011529061.1:c.1380G>A	XP_011527363.1:p.Ala460=
XM_011529062.1:c.1483G>A	XP_011527364.1:p.Gly495Ser
XM_011529063.1:c.1434G>A	XP_011527365.1:p.Ala478=
XM_011529064.1:c.1483G>A	XP_011527366.1:p.Gly495Ser
XM_011529065.1:c.1434G>A	XP_011527367.1:p.Ala478=
XR_936641.1:n.1619G>A
XM_011529060.2:c.1434G>A	XP_011527362.1:p.Ala478=
XM_011529061.2:c.1380G>A	XP_011527363.1:p.Ala460=
XM_011529062.2:c.1483G>A	XP_011527364.1:p.Gly495Ser
XM_011529063.2:c.1434G>A	XP_011527365.1:p.Ala478=
XM_011529064.2:c.1483G>A	XP_011527366.1:p.Gly495Ser
XM_011529065.2:c.1434G>A	XP_011527367.1:p.Ala478=
XM_017028087.2:c.1371G>A	XP_016883576.1:p.Ala457=
XR_936641.2:n.1606G>A
NM_030777.4:c.1371G>A MANE Select	NP_110404.1:p.Ala457=