Canonical Allele Identifier: CA1165412388
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929747G= , CM000663.2:g.42929747G= GRCh38
NC_000001.10:g.43395418G= , CM000663.1:g.43395418G= GRCh37
NC_000001.9:g.43168005G= NCBI36
NG_008232.1:g.34430C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.713C= MANE Select ENSP00000416293.2:p.Thr238=
ENST00000669445.1:c.57-14C=
ENST00000674765.1:c.713C= ENSP00000501811.1:p.Thr238=
ENST00000675112.1:n.736C=
ENST00000676254.1:n.1162C=
ENST00000426263.7:c.713C= ENSP00000416293.2:p.Thr238=
ENST00000439722.2:c.592C= ENSP00000395521.2:n.592C=
ENST00000475162.3:c.415+879C=
ENST00000630287.2:c.*28C= ENSP00000486694.1:n.*28C=
NM_006516.2:c.713C= NP_006507.2:p.Thr238=
NM_006516.3:c.713C= NP_006507.2:p.Thr238=
NM_006516.4:c.713C= MANE Select NP_006507.2:p.Thr238=