Canonical Allele Identifier: CA1165412473
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929995C= , CM000663.2:g.42929995C= GRCh38
NC_000001.10:g.43395666C= , CM000663.1:g.43395666C= GRCh37
NC_000001.9:g.43168253C= NCBI36
NG_008232.1:g.34182G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.557G= MANE Select ENSP00000416293.2:p.Trp186=
ENST00000674765.1:c.557G= ENSP00000501811.1:p.Trp186=
ENST00000675112.1:n.580G=
ENST00000676254.1:n.1006G=
ENST00000426263.7:c.557G= ENSP00000416293.2:p.Trp186=
ENST00000439722.2:c.436G= ENSP00000395521.2:n.436G=
ENST00000475162.3:c.415+631G=
ENST00000630287.2:c.517-215G= ENSP00000486694.1:n.517-215G=
NM_006516.2:c.557G= NP_006507.2:p.Trp186=
NM_006516.3:c.557G= NP_006507.2:p.Trp186=
NM_006516.4:c.557G= MANE Select NP_006507.2:p.Trp186=