Canonical Allele Identifier: CA1165412198
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929280G= , CM000663.2:g.42929280G= GRCh38
NC_000001.10:g.43394951G= , CM000663.1:g.43394951G= GRCh37
NC_000001.9:g.43167538G= NCBI36
NG_008232.1:g.34897C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.902C= MANE Select ENSP00000416293.2:p.Ala301=
ENST00000674545.1:n.220C=
ENST00000674765.1:c.902C= ENSP00000501811.1:p.Ala301=
ENST00000675112.1:n.1203C=
ENST00000676254.1:n.1351C=
ENST00000426263.7:c.902C= ENSP00000416293.2:p.Ala301=
ENST00000439722.2:c.781C= ENSP00000395521.2:n.781C=
ENST00000475162.3:c.415+1346C=
ENST00000630287.2:c.*217C= ENSP00000486694.1:n.*217C=
NM_006516.2:c.902C= NP_006507.2:p.Ala301=
NM_006516.3:c.902C= NP_006507.2:p.Ala301=
NM_006516.4:c.902C= MANE Select NP_006507.2:p.Ala301=