Canonical Allele Identifier: CA1165411515
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927619A= , CM000663.2:g.42927619A= GRCh38
NC_000001.10:g.43393290A= , CM000663.1:g.43393290A= GRCh37
NC_000001.9:g.43165877A= NCBI36
NG_008232.1:g.36558T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1264T= MANE Select ENSP00000416293.2:p.Phe422=
ENST00000674545.1:n.1881T=
ENST00000674765.1:c.1030-762T= ENSP00000501811.1:n.1030-762T=
ENST00000675112.1:n.1565T=
ENST00000676254.1:n.1713T=
ENST00000426263.7:c.1264T= ENSP00000416293.2:p.Phe422=
ENST00000475162.3:c.416-641T=
ENST00000630287.2:c.*579T= ENSP00000486694.1:n.*579T=
NM_006516.2:c.1264T= NP_006507.2:p.Phe422=
NM_006516.3:c.1264T= NP_006507.2:p.Phe422=
NM_006516.4:c.1264T= MANE Select NP_006507.2:p.Phe422=