Canonical Allele Identifier: CA510847714

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1747708
• ClinVar RCV Id: RCV002349760
• dbSNP Id: rs763055043
• gnomAD v4: 20-46725582-C-A
• MyVariant Identifiers: chr20:g.45354221C>A (hg19) ; chr20:g.46725582C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725582C>A , CM000682.2:g.46725582C>A	GRCh38
NC_000020.10:g.45354221C>A , CM000682.1:g.45354221C>A	GRCh37
NC_000020.9:g.44787628C>A	NCBI36
NG_016284.1:g.20943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.546C>A MANE Select	ENSP00000352216.2:p.Leu182=
ENST00000359271.3:c.546C>A	ENSP00000352216.2:p.Leu182=
NM_030777.3:c.546C>A	NP_110404.1:p.Leu182=
XM_011529060.1:c.609C>A	XP_011527362.1:p.Leu203=
XM_011529061.1:c.555C>A	XP_011527363.1:p.Leu185=
XM_011529062.1:c.609C>A	XP_011527364.1:p.Leu203=
XM_011529063.1:c.609C>A	XP_011527365.1:p.Leu203=
XM_011529064.1:c.609C>A	XP_011527366.1:p.Leu203=
XM_011529065.1:c.609C>A	XP_011527367.1:p.Leu203=
XR_936641.1:n.745C>A
XM_011529060.2:c.609C>A	XP_011527362.1:p.Leu203=
XM_011529061.2:c.555C>A	XP_011527363.1:p.Leu185=
XM_011529062.2:c.609C>A	XP_011527364.1:p.Leu203=
XM_011529063.2:c.609C>A	XP_011527365.1:p.Leu203=
XM_011529064.2:c.609C>A	XP_011527366.1:p.Leu203=
XM_011529065.2:c.609C>A	XP_011527367.1:p.Leu203=
XM_017028087.2:c.546C>A	XP_016883576.1:p.Leu182=
XR_936641.2:n.732C>A
NM_030777.4:c.546C>A MANE Select	NP_110404.1:p.Leu182=