Canonical Allele Identifier: CA409266743

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 2629652
• ClinVar RCV Id: RCV003414303
• dbSNP Id: rs886056725
• gnomAD v2: 20-45353975-G-A
• gnomAD v3: 20-46725336-G-A
• gnomAD v4: 20-46725336-G-A
• MyVariant Identifiers: chr20:g.45353975G>A (hg19) ; chr20:g.46725336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725336G>A , CM000682.2:g.46725336G>A	GRCh38
NC_000020.10:g.45353975G>A , CM000682.1:g.45353975G>A	GRCh37
NC_000020.9:g.44787382G>A	NCBI36
NG_016284.1:g.20697G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.300G>A MANE Select	ENSP00000352216.2:p.Trp100Ter
ENST00000359271.3:c.300G>A	ENSP00000352216.2:p.Trp100Ter
ENST00000611837.1:n.452G>A
NM_030777.3:c.300G>A	NP_110404.1:p.Trp100Ter
XM_011529060.1:c.363G>A	XP_011527362.1:p.Trp121Ter
XM_011529061.1:c.309G>A	XP_011527363.1:p.Trp103Ter
XM_011529062.1:c.363G>A	XP_011527364.1:p.Trp121Ter
XM_011529063.1:c.363G>A	XP_011527365.1:p.Trp121Ter
XM_011529064.1:c.363G>A	XP_011527366.1:p.Trp121Ter
XM_011529065.1:c.363G>A	XP_011527367.1:p.Trp121Ter
XR_936641.1:n.499G>A
XM_011529060.2:c.363G>A	XP_011527362.1:p.Trp121Ter
XM_011529061.2:c.309G>A	XP_011527363.1:p.Trp103Ter
XM_011529062.2:c.363G>A	XP_011527364.1:p.Trp121Ter
XM_011529063.2:c.363G>A	XP_011527365.1:p.Trp121Ter
XM_011529064.2:c.363G>A	XP_011527366.1:p.Trp121Ter
XM_011529065.2:c.363G>A	XP_011527367.1:p.Trp121Ter
XM_017028087.2:c.300G>A	XP_016883576.1:p.Trp100Ter
XR_936641.2:n.486G>A
NM_030777.4:c.300G>A MANE Select	NP_110404.1:p.Trp100Ter