Canonical Allele Identifier: CA1147224721
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929752G= , CM000663.2:g.42929752G= GRCh38
NC_000001.10:g.43395423G= , CM000663.1:g.43395423G= GRCh37
NC_000001.9:g.43168010G= NCBI36
NG_008232.1:g.34425C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.708C= MANE Select ENSP00000416293.2:p.Asp236=
ENST00000669445.1:c.57-19C=
ENST00000674765.1:c.708C= ENSP00000501811.1:p.Asp236=
ENST00000675112.1:n.731C=
ENST00000676254.1:n.1157C=
ENST00000426263.7:c.708C= ENSP00000416293.2:p.Asp236=
ENST00000439722.2:c.587C= ENSP00000395521.2:n.587C=
ENST00000475162.3:c.415+874C=
ENST00000630287.2:c.*23C= ENSP00000486694.1:n.*23C=
NM_006516.2:c.708C= NP_006507.2:p.Asp236=
NM_006516.3:c.708C= NP_006507.2:p.Asp236=
NM_006516.4:c.708C= MANE Select NP_006507.2:p.Asp236=