Canonical Allele Identifier: CA323587

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 213711
• ClinVar RCV Id: RCV000199050
• dbSNP Id: rs863223729
• MyVariant Identifiers: chr20:g.45353820T>A (hg19) ; chr20:g.46725181T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725181T>A , CM000682.2:g.46725181T>A	GRCh38
NC_000020.10:g.45353820T>A , CM000682.1:g.45353820T>A	GRCh37
NC_000020.9:g.44787227T>A	NCBI36
NG_016284.1:g.20542T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359271.4:c.145T>A MANE Select	ENSP00000352216.2:p.Phe49Ile
ENST00000359271.3:c.145T>A	ENSP00000352216.2:p.Phe49Ile
ENST00000611837.1:n.297T>A
NM_030777.3:c.145T>A	NP_110404.1:p.Phe49Ile
XM_011529060.1:c.208T>A	XP_011527362.1:p.Phe70Ile
XM_011529061.1:c.154T>A	XP_011527363.1:p.Phe52Ile
XM_011529062.1:c.208T>A	XP_011527364.1:p.Phe70Ile
XM_011529063.1:c.208T>A	XP_011527365.1:p.Phe70Ile
XM_011529064.1:c.208T>A	XP_011527366.1:p.Phe70Ile
XM_011529065.1:c.208T>A	XP_011527367.1:p.Phe70Ile
XR_936641.1:n.344T>A
XM_011529060.2:c.208T>A	XP_011527362.1:p.Phe70Ile
XM_011529061.2:c.154T>A	XP_011527363.1:p.Phe52Ile
XM_011529062.2:c.208T>A	XP_011527364.1:p.Phe70Ile
XM_011529063.2:c.208T>A	XP_011527365.1:p.Phe70Ile
XM_011529064.2:c.208T>A	XP_011527366.1:p.Phe70Ile
XM_011529065.2:c.208T>A	XP_011527367.1:p.Phe70Ile
XM_017028087.2:c.145T>A	XP_016883576.1:p.Phe49Ile
XR_936641.2:n.331T>A
NM_030777.4:c.145T>A MANE Select	NP_110404.1:p.Phe49Ile