Canonical Allele Identifier: CA293551

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 139174
• ClinVar RCV Id: RCV000128124 ; RCV000230382 ; RCV001573811 ; RCV002310712
• dbSNP Id: rs79849424
• ExAC: 20:45354829 C / G
• gnomAD v2: 20-45354829-C-G
• gnomAD v3: 20-46726190-C-G
• gnomAD v4: 20-46726190-C-G
• MyVariant Identifiers: chr20:g.45354829C>G (hg19) ; chr20:g.46726190C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726190C>G , CM000682.2:g.46726190C>G	GRCh38
NC_000020.10:g.45354829C>G , CM000682.1:g.45354829C>G	GRCh37
NC_000020.9:g.44788236C>G	NCBI36
NG_016284.1:g.21551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1154C>G MANE Select	ENSP00000352216.2:p.Ala385Gly
ENST00000359271.3:c.1154C>G	ENSP00000352216.2:p.Ala385Gly
NM_030777.3:c.1154C>G	NP_110404.1:p.Ala385Gly
XM_011529060.1:c.1217C>G	XP_011527362.1:p.Ala406Gly
XM_011529061.1:c.1163C>G	XP_011527363.1:p.Ala388Gly
XM_011529062.1:c.1217C>G	XP_011527364.1:p.Ala406Gly
XM_011529063.1:c.1217C>G	XP_011527365.1:p.Ala406Gly
XM_011529064.1:c.1217C>G	XP_011527366.1:p.Ala406Gly
XM_011529065.1:c.1217C>G	XP_011527367.1:p.Ala406Gly
XR_936641.1:n.1353C>G
XM_011529060.2:c.1217C>G	XP_011527362.1:p.Ala406Gly
XM_011529061.2:c.1163C>G	XP_011527363.1:p.Ala388Gly
XM_011529062.2:c.1217C>G	XP_011527364.1:p.Ala406Gly
XM_011529063.2:c.1217C>G	XP_011527365.1:p.Ala406Gly
XM_011529064.2:c.1217C>G	XP_011527366.1:p.Ala406Gly
XM_011529065.2:c.1217C>G	XP_011527367.1:p.Ala406Gly
XM_017028087.2:c.1154C>G	XP_016883576.1:p.Ala385Gly
XR_936641.2:n.1340C>G
NM_030777.4:c.1154C>G MANE Select	NP_110404.1:p.Ala385Gly