Canonical Allele Identifier: CA1143717655
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927139C= , CM000663.2:g.42927139C= GRCh38
NC_000001.10:g.43392810C= , CM000663.1:g.43392810C= GRCh37
NC_000001.9:g.43165397C= NCBI36
NG_008232.1:g.37038G=

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.1381G= MANE Select ENSP00000416293.2:p.Asp461=
ENST00000674545.1:n.1998G=
ENST00000674765.1:c.1030-282G= ENSP00000501811.1:n.1030-282G=
ENST00000675112.1:n.1682G=
ENST00000676254.1:n.1830G=
ENST00000426263.7:c.1381G= ENSP00000416293.2:p.Asp461=
ENST00000475162.3:c.416-161G=
ENST00000630287.2:c.*696G= ENSP00000486694.1:n.*696G=
NM_006516.2:c.1381G= NP_006507.2:p.Asp461=
NM_006516.3:c.1381G= NP_006507.2:p.Asp461=
NM_006516.4:c.1381G= MANE Select NP_006507.2:p.Asp461=