Canonical Allele Identifier: CA1165412381
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929731C= , CM000663.2:g.42929731C= GRCh38
NC_000001.10:g.43395402C= , CM000663.1:g.43395402C= GRCh37
NC_000001.9:g.43167989C= NCBI36
NG_008232.1:g.34446G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.729G= MANE Select ENSP00000416293.2:p.Glu243=
ENST00000669445.1:c.59G=
ENST00000674765.1:c.729G= ENSP00000501811.1:p.Glu243=
ENST00000675112.1:n.752G=
ENST00000676254.1:n.1178G=
ENST00000426263.7:c.729G= ENSP00000416293.2:p.Glu243=
ENST00000439722.2:c.608G= ENSP00000395521.2:n.608G=
ENST00000475162.3:c.415+895G=
ENST00000630287.2:c.*44G= ENSP00000486694.1:n.*44G=
NM_006516.2:c.729G= NP_006507.2:p.Glu243=
NM_006516.3:c.729G= NP_006507.2:p.Glu243=
NM_006516.4:c.729G= MANE Select NP_006507.2:p.Glu243=