Canonical Allele Identifier: CA9892025

Gene: SLC2A10

Linked Data

• dbSNP Id: rs781667255
• ExAC: 20:45354357 A / T
• gnomAD v2: 20-45354357-A-T
• gnomAD v4: 20-46725718-A-T
• MyVariant Identifiers: chr20:g.45354357A>T (hg19) ; chr20:g.46725718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725718A>T , CM000682.2:g.46725718A>T	GRCh38
NC_000020.10:g.45354357A>T , CM000682.1:g.45354357A>T	GRCh37
NC_000020.9:g.44787764A>T	NCBI36
NG_016284.1:g.21079A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.682A>T MANE Select	ENSP00000352216.2:p.Met228Leu
ENST00000359271.3:c.682A>T	ENSP00000352216.2:p.Met228Leu
NM_030777.3:c.682A>T	NP_110404.1:p.Met228Leu
XM_011529060.1:c.745A>T	XP_011527362.1:p.Met249Leu
XM_011529061.1:c.691A>T	XP_011527363.1:p.Met231Leu
XM_011529062.1:c.745A>T	XP_011527364.1:p.Met249Leu
XM_011529063.1:c.745A>T	XP_011527365.1:p.Met249Leu
XM_011529064.1:c.745A>T	XP_011527366.1:p.Met249Leu
XM_011529065.1:c.745A>T	XP_011527367.1:p.Met249Leu
XR_936641.1:n.881A>T
XM_011529060.2:c.745A>T	XP_011527362.1:p.Met249Leu
XM_011529061.2:c.691A>T	XP_011527363.1:p.Met231Leu
XM_011529062.2:c.745A>T	XP_011527364.1:p.Met249Leu
XM_011529063.2:c.745A>T	XP_011527365.1:p.Met249Leu
XM_011529064.2:c.745A>T	XP_011527366.1:p.Met249Leu
XM_011529065.2:c.745A>T	XP_011527367.1:p.Met249Leu
XM_017028087.2:c.682A>T	XP_016883576.1:p.Met228Leu
XR_936641.2:n.868A>T
NM_030777.4:c.682A>T MANE Select	NP_110404.1:p.Met228Leu