Canonical Allele Identifier: CA019308
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159929
dbSNP Id: rs5811
gnomAD v2: 1-43395367-T-G
gnomAD v3: 1-42929696-T-G
gnomAD v4: 1-42929696-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929696T>G , CM000663.2:g.42929696T>G GRCh38
NC_000001.10:g.43395367T>G , CM000663.1:g.43395367T>G GRCh37
NC_000001.9:g.43167954T>G NCBI36
NG_008232.1:g.34481A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.764A>C MANE Select ENSP00000416293.2:p.Lys255Thr
ENST00000669445.1:c.94A>C
ENST00000674765.1:c.764A>C ENSP00000501811.1:p.Lys255Thr
ENST00000675112.1:n.787A>C
ENST00000676254.1:n.1213A>C
ENST00000426263.7:c.764A>C ENSP00000416293.2:p.Lys255Thr
ENST00000439722.2:c.643A>C ENSP00000395521.2:n.643A>C
ENST00000475162.3:c.415+930A>C
ENST00000630287.2:c.*79A>C ENSP00000486694.1:n.*79A>C
NM_006516.2:c.764A>C NP_006507.2:p.Lys255Thr
NM_006516.3:c.764A>C NP_006507.2:p.Lys255Thr
NM_006516.4:c.764A>C MANE Select NP_006507.2:p.Lys255Thr