Canonical Allele Identifier: CA1165412349
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929660G= , CM000663.2:g.42929660G= GRCh38
NC_000001.10:g.43395331G= , CM000663.1:g.43395331G= GRCh37
NC_000001.9:g.43167918G= NCBI36
NG_008232.1:g.34517C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.800C= MANE Select ENSP00000416293.2:p.Ala267=
ENST00000669445.1:c.130C=
ENST00000674765.1:c.800C= ENSP00000501811.1:p.Ala267=
ENST00000675112.1:n.823C=
ENST00000676254.1:n.1249C=
ENST00000426263.7:c.800C= ENSP00000416293.2:p.Ala267=
ENST00000439722.2:c.679C= ENSP00000395521.2:n.679C=
ENST00000475162.3:c.415+966C=
ENST00000630287.2:c.*115C= ENSP00000486694.1:n.*115C=
NM_006516.2:c.800C= NP_006507.2:p.Ala267=
NM_006516.3:c.800C= NP_006507.2:p.Ala267=
NM_006516.4:c.800C= MANE Select NP_006507.2:p.Ala267=