Canonical Allele Identifier: CA1165411565
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927775C= , CM000663.2:g.42927775C= GRCh38
NC_000001.10:g.43393446C= , CM000663.1:g.43393446C= GRCh37
NC_000001.9:g.43166033C= NCBI36
NG_008232.1:g.36402G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1108G= MANE Select ENSP00000416293.2:p.Val370=
ENST00000674545.1:n.1725G=
ENST00000674765.1:c.1030-918G= ENSP00000501811.1:n.1030-918G=
ENST00000675112.1:n.1409G=
ENST00000676254.1:n.1557G=
ENST00000426263.7:c.1108G= ENSP00000416293.2:p.Val370=
ENST00000475162.3:c.416-797G=
ENST00000630287.2:c.*423G= ENSP00000486694.1:n.*423G=
NM_006516.2:c.1108G= NP_006507.2:p.Val370=
NM_006516.3:c.1108G= NP_006507.2:p.Val370=
NM_006516.4:c.1108G= MANE Select NP_006507.2:p.Val370=