Canonical Allele Identifier: CA9892179

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 535835
• ClinVar RCV Id: RCV000644033 ; RCV001192940 ; RCV003162907
• dbSNP Id: rs774586341
• ExAC: 20:45355615 C / T
• gnomAD v2: 20-45355615-C-T
• gnomAD v3: 20-46726976-C-T
• gnomAD v4: 20-46726976-C-T
• MyVariant Identifiers: chr20:g.45355615C>T (hg19) ; chr20:g.46726976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726976C>T , CM000682.2:g.46726976C>T	GRCh38
NC_000020.10:g.45355615C>T , CM000682.1:g.45355615C>T	GRCh37
NC_000020.9:g.44789022C>T	NCBI36
NG_016284.1:g.22337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1401C>T MANE Select	ENSP00000352216.2:p.Leu467=
ENST00000359271.3:c.1401C>T	ENSP00000352216.2:p.Leu467=
NM_030777.3:c.1401C>T	NP_110404.1:p.Leu467=
XM_011529060.1:c.1464C>T	XP_011527362.1:p.Leu488=
XM_011529061.1:c.1410C>T	XP_011527363.1:p.Leu470=
XM_011529062.1:c.1513C>T	XP_011527364.1:p.Arg505Ter
XM_011529063.1:c.1464C>T	XP_011527365.1:p.Leu488=
XM_011529064.1:c.1513C>T	XP_011527366.1:p.Arg505Ter
XM_011529065.1:c.1464C>T	XP_011527367.1:p.Leu488=
XR_936641.1:n.1649C>T
XM_011529060.2:c.1464C>T	XP_011527362.1:p.Leu488=
XM_011529061.2:c.1410C>T	XP_011527363.1:p.Leu470=
XM_011529062.2:c.1513C>T	XP_011527364.1:p.Arg505Ter
XM_011529063.2:c.1464C>T	XP_011527365.1:p.Leu488=
XM_011529064.2:c.1513C>T	XP_011527366.1:p.Arg505Ter
XM_011529065.2:c.1464C>T	XP_011527367.1:p.Leu488=
XM_017028087.2:c.1401C>T	XP_016883576.1:p.Leu467=
XR_936641.2:n.1636C>T
NM_030777.4:c.1401C>T MANE Select	NP_110404.1:p.Leu467=