Canonical Allele Identifier: CA339953905
Gene: SLC2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927704T>A , CM000663.2:g.42927704T>A GRCh38
NC_000001.10:g.43393375T>A , CM000663.1:g.43393375T>A GRCh37
NC_000001.9:g.43165962T>A NCBI36
NG_008232.1:g.36473A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1179A>T MANE Select ENSP00000416293.2:p.Glu393Asp
ENST00000674545.1:n.1796A>T
ENST00000674765.1:c.1030-847A>T ENSP00000501811.1:n.1030-847A>T
ENST00000675112.1:n.1480A>T
ENST00000676254.1:n.1628A>T
ENST00000426263.7:c.1179A>T ENSP00000416293.2:p.Glu393Asp
ENST00000475162.3:c.416-726A>T
ENST00000630287.2:c.*494A>T ENSP00000486694.1:n.*494A>T
NM_006516.2:c.1179A>T NP_006507.2:p.Glu393Asp
NM_006516.3:c.1179A>T NP_006507.2:p.Glu393Asp
NM_006516.4:c.1179A>T MANE Select NP_006507.2:p.Glu393Asp