Canonical Allele Identifier: CA9892031

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 418496
• ClinVar RCV Id: RCV000486994
• dbSNP Id: rs761633200
• ExAC: 20:45354387 C / G
• gnomAD v2: 20-45354387-C-G
• gnomAD v3: 20-46725748-C-G
• gnomAD v4: 20-46725748-C-G
• MyVariant Identifiers: chr20:g.45354387C>G (hg19) ; chr20:g.46725748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725748C>G , CM000682.2:g.46725748C>G	GRCh38
NC_000020.10:g.45354387C>G , CM000682.1:g.45354387C>G	GRCh37
NC_000020.9:g.44787794C>G	NCBI36
NG_016284.1:g.21109C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.712C>G MANE Select	ENSP00000352216.2:p.Leu238Val
ENST00000359271.3:c.712C>G	ENSP00000352216.2:p.Leu238Val
NM_030777.3:c.712C>G	NP_110404.1:p.Leu238Val
XM_011529060.1:c.775C>G	XP_011527362.1:p.Leu259Val
XM_011529061.1:c.721C>G	XP_011527363.1:p.Leu241Val
XM_011529062.1:c.775C>G	XP_011527364.1:p.Leu259Val
XM_011529063.1:c.775C>G	XP_011527365.1:p.Leu259Val
XM_011529064.1:c.775C>G	XP_011527366.1:p.Leu259Val
XM_011529065.1:c.775C>G	XP_011527367.1:p.Leu259Val
XR_936641.1:n.911C>G
XM_011529060.2:c.775C>G	XP_011527362.1:p.Leu259Val
XM_011529061.2:c.721C>G	XP_011527363.1:p.Leu241Val
XM_011529062.2:c.775C>G	XP_011527364.1:p.Leu259Val
XM_011529063.2:c.775C>G	XP_011527365.1:p.Leu259Val
XM_011529064.2:c.775C>G	XP_011527366.1:p.Leu259Val
XM_011529065.2:c.775C>G	XP_011527367.1:p.Leu259Val
XM_017028087.2:c.712C>G	XP_016883576.1:p.Leu238Val
XR_936641.2:n.898C>G
NM_030777.4:c.712C>G MANE Select	NP_110404.1:p.Leu238Val