Canonical Allele Identifier: CA2645199510
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42930149-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930149T>A , CM000663.2:g.42930149T>A GRCh38
NC_000001.10:g.43395820T>A , CM000663.1:g.43395820T>A GRCh37
NC_000001.9:g.43168407T>A NCBI36
NG_008232.1:g.34028A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-114A>T MANE Select ENSP00000416293.2:n.517-114A>T
ENST00000674765.1:c.517-114A>T ENSP00000501811.1:n.517-114A>T
ENST00000675112.1:n.540-114A>T
ENST00000676254.1:n.966-114A>T
ENST00000426263.7:c.517-114A>T ENSP00000416293.2:n.517-114A>T
ENST00000439722.2:c.396-114A>T ENSP00000395521.2:n.396-114A>T
ENST00000475162.3:c.415+477A>T
ENST00000630287.2:c.517-369A>T ENSP00000486694.1:n.517-369A>T
NM_006516.2:c.517-114A>T NP_006507.2:n.517-114A>T
NM_006516.3:c.517-114A>T NP_006507.2:n.517-114A>T
NM_006516.4:c.517-114A>T MANE Select NP_006507.2:n.517-114A>T