Canonical Allele Identifier: CA1148224246
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927615T= , CM000663.2:g.42927615T= GRCh38
NC_000001.10:g.43393286T= , CM000663.1:g.43393286T= GRCh37
NC_000001.9:g.43165873T= NCBI36
NG_008232.1:g.36562A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1268A= MANE Select ENSP00000416293.2:p.Gln423=
ENST00000674545.1:n.1885A=
ENST00000674765.1:c.1030-758A= ENSP00000501811.1:n.1030-758A=
ENST00000675112.1:n.1569A=
ENST00000676254.1:n.1717A=
ENST00000426263.7:c.1268A= ENSP00000416293.2:p.Gln423=
ENST00000475162.3:c.416-637A=
ENST00000630287.2:c.*583A= ENSP00000486694.1:n.*583A=
NM_006516.2:c.1268A= NP_006507.2:p.Gln423=
NM_006516.3:c.1268A= NP_006507.2:p.Gln423=
NM_006516.4:c.1268A= MANE Select NP_006507.2:p.Gln423=