Canonical Allele Identifier: CA1165411576
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927795C= , CM000663.2:g.42927795C= GRCh38
NC_000001.10:g.43393466C= , CM000663.1:g.43393466C= GRCh37
NC_000001.9:g.43166053C= NCBI36
NG_008232.1:g.36382G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1088G= MANE Select ENSP00000416293.2:p.Trp363=
ENST00000674545.1:n.1705G=
ENST00000674765.1:c.1030-938G= ENSP00000501811.1:n.1030-938G=
ENST00000675112.1:n.1389G=
ENST00000676254.1:n.1537G=
ENST00000426263.7:c.1088G= ENSP00000416293.2:p.Trp363=
ENST00000475162.3:c.416-817G=
ENST00000630287.2:c.*403G= ENSP00000486694.1:n.*403G=
NM_006516.2:c.1088G= NP_006507.2:p.Trp363=
NM_006516.3:c.1088G= NP_006507.2:p.Trp363=
NM_006516.4:c.1088G= MANE Select NP_006507.2:p.Trp363=