Canonical Allele Identifier: CA019189
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197281
ClinVar RCV Id: RCV000178275 RCV001852209
dbSNP Id: rs794727642
COSMIC: COSM3400787 COSM3400788 COSM3400789
MyVariant Identifiers: chr1:g.43396355C>T (hg19) chr1:g.42930684C>T (hg38)
PubMed: PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930684C>T , CM000663.2:g.42930684C>T GRCh38
NC_000001.10:g.43396355C>T , CM000663.1:g.43396355C>T GRCh37
NC_000001.9:g.43168942C>T NCBI36
NG_008232.1:g.33493G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.458G>A MANE Select ENSP00000416293.2:p.Arg153His
ENST00000674765.1:c.458G>A ENSP00000501811.1:p.Arg153His
ENST00000675112.1:n.481G>A
ENST00000676254.1:n.907G>A
ENST00000426263.7:c.458G>A ENSP00000416293.2:p.Arg153His
ENST00000439722.2:c.337G>A ENSP00000395521.2:n.337G>A
ENST00000475162.3:c.357G>A
ENST00000625233.2:n.666G>A
ENST00000630287.2:c.458G>A ENSP00000486694.1:p.Arg153His
NM_006516.2:c.458G>A NP_006507.2:p.Arg153His
NM_006516.3:c.458G>A NP_006507.2:p.Arg153His
NM_006516.4:c.458G>A MANE Select NP_006507.2:p.Arg153His
Search 100 bp 5'
Search 100 bp 3'