Canonical Allele Identifier: CA2739700596
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930576A>T , CM000663.2:g.42930576A>T GRCh38
NC_000001.10:g.43396247A>T , CM000663.1:g.43396247A>T GRCh37
NC_000001.9:g.43168834A>T NCBI36
NG_008232.1:g.33601T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.516+50T>A MANE Select ENSP00000416293.2:n.516+50T>A
ENST00000674765.1:c.516+50T>A ENSP00000501811.1:n.516+50T>A
ENST00000675112.1:n.539+50T>A
ENST00000676254.1:n.965+50T>A
ENST00000426263.7:c.516+50T>A ENSP00000416293.2:n.516+50T>A
ENST00000439722.2:c.395+50T>A ENSP00000395521.2:n.395+50T>A
ENST00000475162.3:c.415+50T>A
ENST00000625233.2:n.774T>A
ENST00000630287.2:c.516+50T>A ENSP00000486694.1:n.516+50T>A
NM_006516.2:c.516+50T>A NP_006507.2:n.516+50T>A
NM_006516.3:c.516+50T>A NP_006507.2:n.516+50T>A
NM_006516.4:c.516+50T>A MANE Select NP_006507.2:n.516+50T>A