Canonical Allele Identifier: CA21251131
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429797
ClinVar RCV Id: RCV000494114
dbSNP Id: rs80359821

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929719C>G , CM000663.2:g.42929719C>G GRCh38
NC_000001.10:g.43395390C>G , CM000663.1:g.43395390C>G GRCh37
NC_000001.9:g.43167977C>G NCBI36
NG_008232.1:g.34458G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.741G>C MANE Select ENSP00000416293.2:p.Glu247Asp
ENST00000669445.1:c.71G>C
ENST00000674765.1:c.741G>C ENSP00000501811.1:p.Glu247Asp
ENST00000675112.1:n.764G>C
ENST00000676254.1:n.1190G>C
ENST00000426263.7:c.741G>C ENSP00000416293.2:p.Glu247Asp
ENST00000439722.2:c.620G>C ENSP00000395521.2:n.620G>C
ENST00000475162.3:c.415+907G>C
ENST00000630287.2:c.*56G>C ENSP00000486694.1:n.*56G>C
NM_006516.2:c.741G>C NP_006507.2:p.Glu247Asp
NM_006516.3:c.741G>C NP_006507.2:p.Glu247Asp
NM_006516.4:c.741G>C MANE Select NP_006507.2:p.Glu247Asp