Canonical Allele Identifier: CA1165412135
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929153G= , CM000663.2:g.42929153G= GRCh38
NC_000001.10:g.43394824G= , CM000663.1:g.43394824G= GRCh37
NC_000001.9:g.43167411G= NCBI36
NG_008232.1:g.35024C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.972+57C= MANE Select ENSP00000416293.2:n.972+57C=
ENST00000674545.1:n.347C=
ENST00000674765.1:c.972+57C= ENSP00000501811.1:n.972+57C=
ENST00000675112.1:n.1273+57C=
ENST00000676254.1:n.1421+57C=
ENST00000426263.7:c.972+57C= ENSP00000416293.2:n.972+57C=
ENST00000439722.2:c.851+57C= ENSP00000395521.2:n.851+57C=
ENST00000475162.3:c.415+1473C=
ENST00000630287.2:c.*287+57C= ENSP00000486694.1:n.*287+57C=
NM_006516.2:c.972+57C= NP_006507.2:n.972+57C=
NM_006516.3:c.972+57C= NP_006507.2:n.972+57C=
NM_006516.4:c.972+57C= MANE Select NP_006507.2:n.972+57C=