Canonical Allele Identifier: CA019335
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16114
ClinVar RCV Id: RCV000017494 RCV000147534 RCV000189361 RCV001851890
dbSNP Id: rs121909740
MyVariant Identifiers: chr1:g.43395308C>T (hg19) chr1:g.42929637C>T (hg38)
PubMed: PMID:18451999
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929637C>T , CM000663.2:g.42929637C>T GRCh38
NC_000001.10:g.43395308C>T , CM000663.1:g.43395308C>T GRCh37
NC_000001.9:g.43167895C>T NCBI36
NG_008232.1:g.34540G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.823G>A MANE Select ENSP00000416293.2:p.Ala275Thr
ENST00000674765.1:c.823G>A ENSP00000501811.1:p.Ala275Thr
ENST00000675112.1:n.846G>A
ENST00000676254.1:n.1272G>A
ENST00000426263.7:c.823G>A ENSP00000416293.2:p.Ala275Thr
ENST00000439722.2:c.702G>A ENSP00000395521.2:n.702G>A
ENST00000475162.3:c.415+989G>A
ENST00000630287.2:c.*138G>A ENSP00000486694.1:n.*138G>A
NM_006516.2:c.823G>A NP_006507.2:p.Ala275Thr
NM_006516.3:c.823G>A NP_006507.2:p.Ala275Thr
NM_006516.4:c.823G>A MANE Select NP_006507.2:p.Ala275Thr
Search 100 bp 5'
Search 100 bp 3'