Canonical Allele Identifier: CA1165412789
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930773G= , CM000663.2:g.42930773G= GRCh38
NC_000001.10:g.43396444G= , CM000663.1:g.43396444G= GRCh37
NC_000001.9:g.43169031G= NCBI36
NG_008232.1:g.33404C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.369C= MANE Select ENSP00000416293.2:p.Ile123=
ENST00000674765.1:c.369C= ENSP00000501811.1:p.Ile123=
ENST00000675112.1:n.392C=
ENST00000676254.1:n.818C=
ENST00000372500.4:c.273C= ENSP00000361578.4:p.Ile91=
ENST00000426263.7:c.369C= ENSP00000416293.2:p.Ile123=
ENST00000439722.2:c.248C= ENSP00000395521.2:n.248C=
ENST00000475162.3:c.268C=
ENST00000625233.2:n.577C=
ENST00000630287.2:c.369C= ENSP00000486694.1:p.Ile123=
NM_006516.2:c.369C= NP_006507.2:p.Ile123=
NM_006516.3:c.369C= NP_006507.2:p.Ile123=
NM_006516.4:c.369C= MANE Select NP_006507.2:p.Ile123=