Canonical Allele Identifier: CA1165412337
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929616G= , CM000663.2:g.42929616G= GRCh38
NC_000001.10:g.43395287G= , CM000663.1:g.43395287G= GRCh37
NC_000001.9:g.43167874G= NCBI36
NG_008232.1:g.34561C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.844C= MANE Select ENSP00000416293.2:p.Gln282=
ENST00000674765.1:c.844C= ENSP00000501811.1:p.Gln282=
ENST00000675112.1:n.867C=
ENST00000676254.1:n.1293C=
ENST00000426263.7:c.844C= ENSP00000416293.2:p.Gln282=
ENST00000439722.2:c.723C= ENSP00000395521.2:n.723C=
ENST00000475162.3:c.415+1010C=
ENST00000630287.2:c.*159C= ENSP00000486694.1:n.*159C=
NM_006516.2:c.844C= NP_006507.2:p.Gln282=
NM_006516.3:c.844C= NP_006507.2:p.Gln282=
NM_006516.4:c.844C= MANE Select NP_006507.2:p.Gln282=