Canonical Allele Identifier: CA21251080
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs121909738
gnomAD v2: 1-43395365-T-C
gnomAD v3: 1-42929694-T-C
gnomAD v4: 1-42929694-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929694T>C , CM000663.2:g.42929694T>C GRCh38
NC_000001.10:g.43395365T>C , CM000663.1:g.43395365T>C GRCh37
NC_000001.9:g.43167952T>C NCBI36
NG_008232.1:g.34483A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.766A>G MANE Select ENSP00000416293.2:p.Lys256Glu
ENST00000669445.1:c.96A>G
ENST00000674765.1:c.766A>G ENSP00000501811.1:p.Lys256Glu
ENST00000675112.1:n.789A>G
ENST00000676254.1:n.1215A>G
ENST00000426263.7:c.766A>G ENSP00000416293.2:p.Lys256Glu
ENST00000439722.2:c.645A>G ENSP00000395521.2:n.645A>G
ENST00000475162.3:c.415+932A>G
ENST00000630287.2:c.*81A>G ENSP00000486694.1:n.*81A>G
NM_006516.2:c.766A>G NP_006507.2:p.Lys256Glu
NM_006516.3:c.766A>G NP_006507.2:p.Lys256Glu
NM_006516.4:c.766A>G MANE Select NP_006507.2:p.Lys256Glu