Canonical Allele Identifier: CA9892167

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 3228062
• ClinVar RCV Id: RCV004517806
• dbSNP Id: rs775312063
• ExAC: 20:45355534 T / C
• gnomAD v2: 20-45355534-T-C
• gnomAD v4: 20-46726895-T-C
• MyVariant Identifiers: chr20:g.45355534T>C (hg19) ; chr20:g.46726895T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46726895T>C , CM000682.2:g.46726895T>C	GRCh38
NC_000020.10:g.45355534T>C , CM000682.1:g.45355534T>C	GRCh37
NC_000020.9:g.44788941T>C	NCBI36
NG_016284.1:g.22256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.1320T>C MANE Select	ENSP00000352216.2:p.Pro440=
ENST00000359271.3:c.1320T>C	ENSP00000352216.2:p.Pro440=
NM_030777.3:c.1320T>C	NP_110404.1:p.Pro440=
XM_011529060.1:c.1383T>C	XP_011527362.1:p.Pro461=
XM_011529061.1:c.1329T>C	XP_011527363.1:p.Pro443=
XM_011529062.1:c.1432T>C	XP_011527364.1:p.Cys478Arg
XM_011529063.1:c.1383T>C	XP_011527365.1:p.Pro461=
XM_011529064.1:c.1432T>C	XP_011527366.1:p.Cys478Arg
XM_011529065.1:c.1383T>C	XP_011527367.1:p.Pro461=
XR_936641.1:n.1568T>C
XM_011529060.2:c.1383T>C	XP_011527362.1:p.Pro461=
XM_011529061.2:c.1329T>C	XP_011527363.1:p.Pro443=
XM_011529062.2:c.1432T>C	XP_011527364.1:p.Cys478Arg
XM_011529063.2:c.1383T>C	XP_011527365.1:p.Pro461=
XM_011529064.2:c.1432T>C	XP_011527366.1:p.Cys478Arg
XM_011529065.2:c.1383T>C	XP_011527367.1:p.Pro461=
XM_017028087.2:c.1320T>C	XP_016883576.1:p.Pro440=
XR_936641.2:n.1555T>C
NM_030777.4:c.1320T>C MANE Select	NP_110404.1:p.Pro440=