Canonical Allele Identifier: CA1165411540
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927689A= , CM000663.2:g.42927689A= GRCh38
NC_000001.10:g.43393360A= , CM000663.1:g.43393360A= GRCh37
NC_000001.9:g.43165947A= NCBI36
NG_008232.1:g.36488T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1194T= MANE Select ENSP00000416293.2:p.Gly398=
ENST00000674545.1:n.1811T=
ENST00000674765.1:c.1030-832T= ENSP00000501811.1:n.1030-832T=
ENST00000675112.1:n.1495T=
ENST00000676254.1:n.1643T=
ENST00000426263.7:c.1194T= ENSP00000416293.2:p.Gly398=
ENST00000475162.3:c.416-711T=
ENST00000630287.2:c.*509T= ENSP00000486694.1:n.*509T=
NM_006516.2:c.1194T= NP_006507.2:p.Gly398=
NM_006516.3:c.1194T= NP_006507.2:p.Gly398=
NM_006516.4:c.1194T= MANE Select NP_006507.2:p.Gly398=