Canonical Allele Identifier: CA315756000

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1756414
• ClinVar RCV Id: RCV002362545
• dbSNP Id: rs190252962
• gnomAD v4: 20-46725733-A-G
• MyVariant Identifiers: chr20:g.45354372A>G (hg19) ; chr20:g.46725733A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725733A>G , CM000682.2:g.46725733A>G	GRCh38
NC_000020.10:g.45354372A>G , CM000682.1:g.45354372A>G	GRCh37
NC_000020.9:g.44787779A>G	NCBI36
NG_016284.1:g.21094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.697A>G MANE Select	ENSP00000352216.2:p.Thr233Ala
ENST00000359271.3:c.697A>G	ENSP00000352216.2:p.Thr233Ala
NM_030777.3:c.697A>G	NP_110404.1:p.Thr233Ala
XM_011529060.1:c.760A>G	XP_011527362.1:p.Thr254Ala
XM_011529061.1:c.706A>G	XP_011527363.1:p.Thr236Ala
XM_011529062.1:c.760A>G	XP_011527364.1:p.Thr254Ala
XM_011529063.1:c.760A>G	XP_011527365.1:p.Thr254Ala
XM_011529064.1:c.760A>G	XP_011527366.1:p.Thr254Ala
XM_011529065.1:c.760A>G	XP_011527367.1:p.Thr254Ala
XR_936641.1:n.896A>G
XM_011529060.2:c.760A>G	XP_011527362.1:p.Thr254Ala
XM_011529061.2:c.706A>G	XP_011527363.1:p.Thr236Ala
XM_011529062.2:c.760A>G	XP_011527364.1:p.Thr254Ala
XM_011529063.2:c.760A>G	XP_011527365.1:p.Thr254Ala
XM_011529064.2:c.760A>G	XP_011527366.1:p.Thr254Ala
XM_011529065.2:c.760A>G	XP_011527367.1:p.Thr254Ala
XM_017028087.2:c.697A>G	XP_016883576.1:p.Thr233Ala
XR_936641.2:n.883A>G
NM_030777.4:c.697A>G MANE Select	NP_110404.1:p.Thr233Ala