Canonical Allele Identifier: CA1165412389
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929750A= , CM000663.2:g.42929750A= GRCh38
NC_000001.10:g.43395421A= , CM000663.1:g.43395421A= GRCh37
NC_000001.9:g.43168008A= NCBI36
NG_008232.1:g.34427T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.710T= MANE Select ENSP00000416293.2:p.Val237=
ENST00000669445.1:c.57-17T=
ENST00000674765.1:c.710T= ENSP00000501811.1:p.Val237=
ENST00000675112.1:n.733T=
ENST00000676254.1:n.1159T=
ENST00000426263.7:c.710T= ENSP00000416293.2:p.Val237=
ENST00000439722.2:c.589T= ENSP00000395521.2:n.589T=
ENST00000475162.3:c.415+876T=
ENST00000630287.2:c.*25T= ENSP00000486694.1:n.*25T=
NM_006516.2:c.710T= NP_006507.2:p.Val237=
NM_006516.3:c.710T= NP_006507.2:p.Val237=
NM_006516.4:c.710T= MANE Select NP_006507.2:p.Val237=