Canonical Allele Identifier: CA409267227

Gene: SLC2A10

Linked Data

• ClinVar Variation Id: 1747785
• ClinVar RCV Id: RCV002349837
• dbSNP Id: rs1450552433
• gnomAD v2: 20-45354222-C-T
• gnomAD v4: 20-46725583-C-T
• MyVariant Identifiers: chr20:g.45354222C>T (hg19) ; chr20:g.46725583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46725583C>T , CM000682.2:g.46725583C>T	GRCh38
NC_000020.10:g.45354222C>T , CM000682.1:g.45354222C>T	GRCh37
NC_000020.9:g.44787629C>T	NCBI36
NG_016284.1:g.20944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359271.4:c.547C>T MANE Select	ENSP00000352216.2:p.Leu183Phe
ENST00000359271.3:c.547C>T	ENSP00000352216.2:p.Leu183Phe
NM_030777.3:c.547C>T	NP_110404.1:p.Leu183Phe
XM_011529060.1:c.610C>T	XP_011527362.1:p.Leu204Phe
XM_011529061.1:c.556C>T	XP_011527363.1:p.Leu186Phe
XM_011529062.1:c.610C>T	XP_011527364.1:p.Leu204Phe
XM_011529063.1:c.610C>T	XP_011527365.1:p.Leu204Phe
XM_011529064.1:c.610C>T	XP_011527366.1:p.Leu204Phe
XM_011529065.1:c.610C>T	XP_011527367.1:p.Leu204Phe
XR_936641.1:n.746C>T
XM_011529060.2:c.610C>T	XP_011527362.1:p.Leu204Phe
XM_011529061.2:c.556C>T	XP_011527363.1:p.Leu186Phe
XM_011529062.2:c.610C>T	XP_011527364.1:p.Leu204Phe
XM_011529063.2:c.610C>T	XP_011527365.1:p.Leu204Phe
XM_011529064.2:c.610C>T	XP_011527366.1:p.Leu204Phe
XM_011529065.2:c.610C>T	XP_011527367.1:p.Leu204Phe
XM_017028087.2:c.547C>T	XP_016883576.1:p.Leu183Phe
XR_936641.2:n.733C>T
NM_030777.4:c.547C>T MANE Select	NP_110404.1:p.Leu183Phe