Canonical Allele Identifier: CA1165412374
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929715G= , CM000663.2:g.42929715G= GRCh38
NC_000001.10:g.43395386G= , CM000663.1:g.43395386G= GRCh37
NC_000001.9:g.43167973G= NCBI36
NG_008232.1:g.34462C=

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.745C= MANE Select ENSP00000416293.2:p.Arg249=
ENST00000669445.1:c.75C=
ENST00000674765.1:c.745C= ENSP00000501811.1:p.Arg249=
ENST00000675112.1:n.768C=
ENST00000676254.1:n.1194C=
ENST00000426263.7:c.745C= ENSP00000416293.2:p.Arg249=
ENST00000439722.2:c.624C= ENSP00000395521.2:n.624C=
ENST00000475162.3:c.415+911C=
ENST00000630287.2:c.*60C= ENSP00000486694.1:n.*60C=
NM_006516.2:c.745C= NP_006507.2:p.Arg249=
NM_006516.3:c.745C= NP_006507.2:p.Arg249=
NM_006516.4:c.745C= MANE Select NP_006507.2:p.Arg249=