Canonical Allele Identifier: CA340263

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 4585
• ClinVar RCV Id: RCV000004847 ; RCV001579411
• dbSNP Id: rs80358229
• MyVariant Identifiers: chr20:g.45354185G>A (hg19) ; chr20:g.46725546G>A (hg38)
• PubMed: PMID:16550171 ; PMID:23410549 ; PMID:25392904

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725546G>A , CM000682.2:g.46725546G>A	GRCh38
NC_000020.10:g.45354185G>A , CM000682.1:g.45354185G>A	GRCh37
NC_000020.9:g.44787592G>A	NCBI36
NG_016284.1:g.20907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.510G>A MANE Select	ENSP00000352216.2:p.Trp170Ter
ENST00000359271.3:c.510G>A	ENSP00000352216.2:p.Trp170Ter
NM_030777.3:c.510G>A	NP_110404.1:p.Trp170Ter
XM_011529060.1:c.573G>A	XP_011527362.1:p.Trp191Ter
XM_011529061.1:c.519G>A	XP_011527363.1:p.Trp173Ter
XM_011529062.1:c.573G>A	XP_011527364.1:p.Trp191Ter
XM_011529063.1:c.573G>A	XP_011527365.1:p.Trp191Ter
XM_011529064.1:c.573G>A	XP_011527366.1:p.Trp191Ter
XM_011529065.1:c.573G>A	XP_011527367.1:p.Trp191Ter
XR_936641.1:n.709G>A
XM_011529060.2:c.573G>A	XP_011527362.1:p.Trp191Ter
XM_011529061.2:c.519G>A	XP_011527363.1:p.Trp173Ter
XM_011529062.2:c.573G>A	XP_011527364.1:p.Trp191Ter
XM_011529063.2:c.573G>A	XP_011527365.1:p.Trp191Ter
XM_011529064.2:c.573G>A	XP_011527366.1:p.Trp191Ter
XM_011529065.2:c.573G>A	XP_011527367.1:p.Trp191Ter
XM_017028087.2:c.510G>A	XP_016883576.1:p.Trp170Ter
XR_936641.2:n.696G>A
NM_030777.4:c.510G>A MANE Select	NP_110404.1:p.Trp170Ter