Canonical Allele Identifier: CA1165412182
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929237G= , CM000663.2:g.42929237G= GRCh38
NC_000001.10:g.43394908G= , CM000663.1:g.43394908G= GRCh37
NC_000001.9:g.43167495G= NCBI36
NG_008232.1:g.34940C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.945C= MANE Select ENSP00000416293.2:p.Ile315=
ENST00000674545.1:n.263C=
ENST00000674765.1:c.945C= ENSP00000501811.1:p.Ile315=
ENST00000675112.1:n.1246C=
ENST00000676254.1:n.1394C=
ENST00000426263.7:c.945C= ENSP00000416293.2:p.Ile315=
ENST00000439722.2:c.824C= ENSP00000395521.2:n.824C=
ENST00000475162.3:c.415+1389C=
ENST00000630287.2:c.*260C= ENSP00000486694.1:n.*260C=
NM_006516.2:c.945C= NP_006507.2:p.Ile315=
NM_006516.3:c.945C= NP_006507.2:p.Ile315=
NM_006516.4:c.945C= MANE Select NP_006507.2:p.Ile315=