Canonical Allele Identifier: CA9891947

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1913218
• ClinVar RCV Id: RCV002608268
• dbSNP Id: rs769322801
• ExAC: 20:45353953 G / T
• gnomAD v2: 20-45353953-G-T
• gnomAD v4: 20-46725314-G-T
• MyVariant Identifiers: chr20:g.45353953G>T (hg19) ; chr20:g.46725314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725314G>T , CM000682.2:g.46725314G>T	GRCh38
NC_000020.10:g.45353953G>T , CM000682.1:g.45353953G>T	GRCh37
NC_000020.9:g.44787360G>T	NCBI36
NG_016284.1:g.20675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.278G>T MANE Select	ENSP00000352216.2:p.Gly93Val
ENST00000359271.3:c.278G>T	ENSP00000352216.2:p.Gly93Val
ENST00000611837.1:n.430G>T
NM_030777.3:c.278G>T	NP_110404.1:p.Gly93Val
XM_011529060.1:c.341G>T	XP_011527362.1:p.Gly114Val
XM_011529061.1:c.287G>T	XP_011527363.1:p.Gly96Val
XM_011529062.1:c.341G>T	XP_011527364.1:p.Gly114Val
XM_011529063.1:c.341G>T	XP_011527365.1:p.Gly114Val
XM_011529064.1:c.341G>T	XP_011527366.1:p.Gly114Val
XM_011529065.1:c.341G>T	XP_011527367.1:p.Gly114Val
XR_936641.1:n.477G>T
XM_011529060.2:c.341G>T	XP_011527362.1:p.Gly114Val
XM_011529061.2:c.287G>T	XP_011527363.1:p.Gly96Val
XM_011529062.2:c.341G>T	XP_011527364.1:p.Gly114Val
XM_011529063.2:c.341G>T	XP_011527365.1:p.Gly114Val
XM_011529064.2:c.341G>T	XP_011527366.1:p.Gly114Val
XM_011529065.2:c.341G>T	XP_011527367.1:p.Gly114Val
XM_017028087.2:c.278G>T	XP_016883576.1:p.Gly93Val
XR_936641.2:n.464G>T
NM_030777.4:c.278G>T MANE Select	NP_110404.1:p.Gly93Val