Canonical Allele Identifier: CA409266442

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 656645
• ClinVar RCV Id: RCV000813114
• dbSNP Id: rs1600666532
• MyVariant Identifiers: chr20:g.45353822C>G (hg19) ; chr20:g.46725183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725183C>G , CM000682.2:g.46725183C>G	GRCh38
NC_000020.10:g.45353822C>G , CM000682.1:g.45353822C>G	GRCh37
NC_000020.9:g.44787229C>G	NCBI36
NG_016284.1:g.20544C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.147C>G MANE Select	ENSP00000352216.2:p.Phe49Leu
ENST00000359271.3:c.147C>G	ENSP00000352216.2:p.Phe49Leu
ENST00000611837.1:n.299C>G
NM_030777.3:c.147C>G	NP_110404.1:p.Phe49Leu
XM_011529060.1:c.210C>G	XP_011527362.1:p.Phe70Leu
XM_011529061.1:c.156C>G	XP_011527363.1:p.Phe52Leu
XM_011529062.1:c.210C>G	XP_011527364.1:p.Phe70Leu
XM_011529063.1:c.210C>G	XP_011527365.1:p.Phe70Leu
XM_011529064.1:c.210C>G	XP_011527366.1:p.Phe70Leu
XM_011529065.1:c.210C>G	XP_011527367.1:p.Phe70Leu
XR_936641.1:n.346C>G
XM_011529060.2:c.210C>G	XP_011527362.1:p.Phe70Leu
XM_011529061.2:c.156C>G	XP_011527363.1:p.Phe52Leu
XM_011529062.2:c.210C>G	XP_011527364.1:p.Phe70Leu
XM_011529063.2:c.210C>G	XP_011527365.1:p.Phe70Leu
XM_011529064.2:c.210C>G	XP_011527366.1:p.Phe70Leu
XM_011529065.2:c.210C>G	XP_011527367.1:p.Phe70Leu
XM_017028087.2:c.147C>G	XP_016883576.1:p.Phe49Leu
XR_936641.2:n.333C>G
NM_030777.4:c.147C>G MANE Select	NP_110404.1:p.Phe49Leu