Canonical Allele Identifier: CA1165411575
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927793T= , CM000663.2:g.42927793T= GRCh38
NC_000001.10:g.43393464T= , CM000663.1:g.43393464T= GRCh37
NC_000001.9:g.43166051T= NCBI36
NG_008232.1:g.36384A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1090A= MANE Select ENSP00000416293.2:p.Met364=
ENST00000674545.1:n.1707A=
ENST00000674765.1:c.1030-936A= ENSP00000501811.1:n.1030-936A=
ENST00000675112.1:n.1391A=
ENST00000676254.1:n.1539A=
ENST00000426263.7:c.1090A= ENSP00000416293.2:p.Met364=
ENST00000475162.3:c.416-815A=
ENST00000630287.2:c.*405A= ENSP00000486694.1:n.*405A=
NM_006516.2:c.1090A= NP_006507.2:p.Met364=
NM_006516.3:c.1090A= NP_006507.2:p.Met364=
NM_006516.4:c.1090A= MANE Select NP_006507.2:p.Met364=