Canonical Allele Identifier: CA1165412336
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929612T= , CM000663.2:g.42929612T= GRCh38
NC_000001.10:g.43395283T= , CM000663.1:g.43395283T= GRCh37
NC_000001.9:g.43167870T= NCBI36
NG_008232.1:g.34565A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.848A= MANE Select ENSP00000416293.2:p.Gln283=
ENST00000674765.1:c.848A= ENSP00000501811.1:p.Gln283=
ENST00000675112.1:n.871A=
ENST00000676254.1:n.1297A=
ENST00000426263.7:c.848A= ENSP00000416293.2:p.Gln283=
ENST00000439722.2:c.727A= ENSP00000395521.2:n.727A=
ENST00000475162.3:c.415+1014A=
ENST00000630287.2:c.*163A= ENSP00000486694.1:n.*163A=
NM_006516.2:c.848A= NP_006507.2:p.Gln283=
NM_006516.3:c.848A= NP_006507.2:p.Gln283=
NM_006516.4:c.848A= MANE Select NP_006507.2:p.Gln283=