Canonical Allele Identifier: CA1165412387
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929744T= , CM000663.2:g.42929744T= GRCh38
NC_000001.10:g.43395415T= , CM000663.1:g.43395415T= GRCh37
NC_000001.9:g.43168002T= NCBI36
NG_008232.1:g.34433A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.716A= MANE Select ENSP00000416293.2:p.His239=
ENST00000669445.1:c.57-11A=
ENST00000674765.1:c.716A= ENSP00000501811.1:p.His239=
ENST00000675112.1:n.739A=
ENST00000676254.1:n.1165A=
ENST00000426263.7:c.716A= ENSP00000416293.2:p.His239=
ENST00000439722.2:c.595A= ENSP00000395521.2:n.595A=
ENST00000475162.3:c.415+882A=
ENST00000630287.2:c.*31A= ENSP00000486694.1:n.*31A=
NM_006516.2:c.716A= NP_006507.2:p.His239=
NM_006516.3:c.716A= NP_006507.2:p.His239=
NM_006516.4:c.716A= MANE Select NP_006507.2:p.His239=