Canonical Allele Identifier: CA324019

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213747
• ClinVar RCV Id: RCV000199476 ; RCV001192939 ; RCV002054312 ; RCV002336533
• dbSNP Id: rs540023880
• ExAC: 20:45354179 C / A
• gnomAD v2: 20-45354179-C-A
• gnomAD v3: 20-46725540-C-A
• gnomAD v4: 20-46725540-C-A
• MyVariant Identifiers: chr20:g.45354179C>A (hg19) ; chr20:g.46725540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725540C>A , CM000682.2:g.46725540C>A	GRCh38
NC_000020.10:g.45354179C>A , CM000682.1:g.45354179C>A	GRCh37
NC_000020.9:g.44787586C>A	NCBI36
NG_016284.1:g.20901C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.504C>A MANE Select	ENSP00000352216.2:p.Phe168Leu
ENST00000359271.3:c.504C>A	ENSP00000352216.2:p.Phe168Leu
NM_030777.3:c.504C>A	NP_110404.1:p.Phe168Leu
XM_011529060.1:c.567C>A	XP_011527362.1:p.Phe189Leu
XM_011529061.1:c.513C>A	XP_011527363.1:p.Phe171Leu
XM_011529062.1:c.567C>A	XP_011527364.1:p.Phe189Leu
XM_011529063.1:c.567C>A	XP_011527365.1:p.Phe189Leu
XM_011529064.1:c.567C>A	XP_011527366.1:p.Phe189Leu
XM_011529065.1:c.567C>A	XP_011527367.1:p.Phe189Leu
XR_936641.1:n.703C>A
XM_011529060.2:c.567C>A	XP_011527362.1:p.Phe189Leu
XM_011529061.2:c.513C>A	XP_011527363.1:p.Phe171Leu
XM_011529062.2:c.567C>A	XP_011527364.1:p.Phe189Leu
XM_011529063.2:c.567C>A	XP_011527365.1:p.Phe189Leu
XM_011529064.2:c.567C>A	XP_011527366.1:p.Phe189Leu
XM_011529065.2:c.567C>A	XP_011527367.1:p.Phe189Leu
XM_017028087.2:c.504C>A	XP_016883576.1:p.Phe168Leu
XR_936641.2:n.690C>A
NM_030777.4:c.504C>A MANE Select	NP_110404.1:p.Phe168Leu