Canonical Allele Identifier: CA1165411534
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927675G= , CM000663.2:g.42927675G= GRCh38
NC_000001.10:g.43393346G= , CM000663.1:g.43393346G= GRCh37
NC_000001.9:g.43165933G= NCBI36
NG_008232.1:g.36502C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1208C= MANE Select ENSP00000416293.2:p.Ala403=
ENST00000674545.1:n.1825C=
ENST00000674765.1:c.1030-818C= ENSP00000501811.1:n.1030-818C=
ENST00000675112.1:n.1509C=
ENST00000676254.1:n.1657C=
ENST00000426263.7:c.1208C= ENSP00000416293.2:p.Ala403=
ENST00000475162.3:c.416-697C=
ENST00000630287.2:c.*523C= ENSP00000486694.1:n.*523C=
NM_006516.2:c.1208C= NP_006507.2:p.Ala403=
NM_006516.3:c.1208C= NP_006507.2:p.Ala403=
NM_006516.4:c.1208C= MANE Select NP_006507.2:p.Ala403=