Canonical Allele Identifier: CA1139921538
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929216G= , CM000663.2:g.42929216G= GRCh38
NC_000001.10:g.43394887G= , CM000663.1:g.43394887G= GRCh37
NC_000001.9:g.43167474G= NCBI36
NG_008232.1:g.34961C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.966C= MANE Select ENSP00000416293.2:p.Val322=
ENST00000674545.1:n.284C=
ENST00000674765.1:c.966C= ENSP00000501811.1:p.Val322=
ENST00000675112.1:n.1267C=
ENST00000676254.1:n.1415C=
ENST00000426263.7:c.966C= ENSP00000416293.2:p.Val322=
ENST00000439722.2:c.845C= ENSP00000395521.2:n.845C=
ENST00000475162.3:c.415+1410C=
ENST00000630287.2:c.*281C= ENSP00000486694.1:n.*281C=
NM_006516.2:c.966C= NP_006507.2:p.Val322=
NM_006516.3:c.966C= NP_006507.2:p.Val322=
NM_006516.4:c.966C= MANE Select NP_006507.2:p.Val322=