Canonical Allele Identifier: CA1165412471
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929989A= , CM000663.2:g.42929989A= GRCh38
NC_000001.10:g.43395660A= , CM000663.1:g.43395660A= GRCh37
NC_000001.9:g.43168247A= NCBI36
NG_008232.1:g.34188T=

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.563T= MANE Select ENSP00000416293.2:p.Leu188=
ENST00000674765.1:c.563T= ENSP00000501811.1:p.Leu188=
ENST00000675112.1:n.586T=
ENST00000676254.1:n.1012T=
ENST00000426263.7:c.563T= ENSP00000416293.2:p.Leu188=
ENST00000439722.2:c.442T= ENSP00000395521.2:n.442T=
ENST00000475162.3:c.415+637T=
ENST00000630287.2:c.517-209T= ENSP00000486694.1:n.517-209T=
NM_006516.2:c.563T= NP_006507.2:p.Leu188=
NM_006516.3:c.563T= NP_006507.2:p.Leu188=
NM_006516.4:c.563T= MANE Select NP_006507.2:p.Leu188=