Canonical Allele Identifier: CA1165411562
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927770G= , CM000663.2:g.42927770G= GRCh38
NC_000001.10:g.43393441G= , CM000663.1:g.43393441G= GRCh37
NC_000001.9:g.43166028G= NCBI36
NG_008232.1:g.36407C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1113C= MANE Select ENSP00000416293.2:p.Ala371=
ENST00000674545.1:n.1730C=
ENST00000674765.1:c.1030-913C= ENSP00000501811.1:n.1030-913C=
ENST00000675112.1:n.1414C=
ENST00000676254.1:n.1562C=
ENST00000426263.7:c.1113C= ENSP00000416293.2:p.Ala371=
ENST00000475162.3:c.416-792C=
ENST00000630287.2:c.*428C= ENSP00000486694.1:n.*428C=
NM_006516.2:c.1113C= NP_006507.2:p.Ala371=
NM_006516.3:c.1113C= NP_006507.2:p.Ala371=
NM_006516.4:c.1113C= MANE Select NP_006507.2:p.Ala371=