Canonical Allele Identifier: CA2739700105
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929157G>C , CM000663.2:g.42929157G>C GRCh38
NC_000001.10:g.43394828G>C , CM000663.1:g.43394828G>C GRCh37
NC_000001.9:g.43167415G>C NCBI36
NG_008232.1:g.35020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+53C>G MANE Select ENSP00000416293.2:n.972+53C>G
ENST00000674545.1:n.343C>G
ENST00000674765.1:c.972+53C>G ENSP00000501811.1:n.972+53C>G
ENST00000675112.1:n.1273+53C>G
ENST00000676254.1:n.1421+53C>G
ENST00000426263.7:c.972+53C>G ENSP00000416293.2:n.972+53C>G
ENST00000439722.2:c.851+53C>G ENSP00000395521.2:n.851+53C>G
ENST00000475162.3:c.415+1469C>G
ENST00000630287.2:c.*287+53C>G ENSP00000486694.1:n.*287+53C>G
NM_006516.2:c.972+53C>G NP_006507.2:n.972+53C>G
NM_006516.3:c.972+53C>G NP_006507.2:n.972+53C>G
NM_006516.4:c.972+53C>G MANE Select NP_006507.2:n.972+53C>G