Canonical Allele Identifier: CA21252545
Community Standard Title: NM_006516.4(SLC2A1):c.123G>A (p.Glu41=)
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931198C>T , CM000663.2:g.42931198C>T GRCh38
NC_000001.10:g.43396869C>T , CM000663.1:g.43396869C>T GRCh37
NC_000001.9:g.43169456C>T NCBI36
NG_008232.1:g.32979G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006516.4:c.123G>A MANE Select NP_006507.2:p.Glu41=
ENST00000426263.10:c.123G>A MANE Select ENSP00000416293.2:p.Glu41=
NM_006516.2:c.123G>A NP_006507.2:p.Glu41=
NM_006516.3:c.123G>A NP_006507.2:p.Glu41=
ENST00000372500.4:c.27G>A ENSP00000361578.4:p.Glu9=
ENST00000415851.6:n.340G>A
ENST00000426263.7:c.123G>A ENSP00000416293.2:p.Glu41=
ENST00000475162.3:c.22G>A
ENST00000625233.2:n.331G>A
ENST00000628173.1:n.469G>A
ENST00000630287.2:c.123G>A ENSP00000486694.1:p.Glu41=
ENST00000674765.1:c.123G>A ENSP00000501811.1:p.Glu41=
ENST00000675112.1:n.146G>A
ENST00000676254.1:n.572G>A