Canonical Allele Identifier: CA510847840

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 3228072
• ClinVar RCV Id: RCV004517816
• dbSNP Id: rs1979885142
• gnomAD v4: 20-46725750-G-A
• MyVariant Identifiers: chr20:g.45354389G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725750G>A , CM000682.2:g.46725750G>A	GRCh38
NC_000020.10:g.45354389G>A , CM000682.1:g.45354389G>A	GRCh37
NC_000020.9:g.44787796G>A	NCBI36
NG_016284.1:g.21111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.714G>A MANE Select	ENSP00000352216.2:p.Leu238=
ENST00000359271.3:c.714G>A	ENSP00000352216.2:p.Leu238=
NM_030777.3:c.714G>A	NP_110404.1:p.Leu238=
XM_011529060.1:c.777G>A	XP_011527362.1:p.Leu259=
XM_011529061.1:c.723G>A	XP_011527363.1:p.Leu241=
XM_011529062.1:c.777G>A	XP_011527364.1:p.Leu259=
XM_011529063.1:c.777G>A	XP_011527365.1:p.Leu259=
XM_011529064.1:c.777G>A	XP_011527366.1:p.Leu259=
XM_011529065.1:c.777G>A	XP_011527367.1:p.Leu259=
XR_936641.1:n.913G>A
XM_011529060.2:c.777G>A	XP_011527362.1:p.Leu259=
XM_011529061.2:c.723G>A	XP_011527363.1:p.Leu241=
XM_011529062.2:c.777G>A	XP_011527364.1:p.Leu259=
XM_011529063.2:c.777G>A	XP_011527365.1:p.Leu259=
XM_011529064.2:c.777G>A	XP_011527366.1:p.Leu259=
XM_011529065.2:c.777G>A	XP_011527367.1:p.Leu259=
XM_017028087.2:c.714G>A	XP_016883576.1:p.Leu238=
XR_936641.2:n.900G>A
NM_030777.4:c.714G>A MANE Select	NP_110404.1:p.Leu238=