Canonical Allele Identifier: CA2574338973
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42929386-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929386G>T , CM000663.2:g.42929386G>T GRCh38
NC_000001.10:g.43395057G>T , CM000663.1:g.43395057G>T GRCh37
NC_000001.9:g.43167644G>T NCBI36
NG_008232.1:g.34791C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.868-72C>A MANE Select ENSP00000416293.2:n.868-72C>A
ENST00000674545.1:n.114C>A
ENST00000674765.1:c.868-72C>A ENSP00000501811.1:n.868-72C>A
ENST00000675112.1:n.1097C>A
ENST00000676254.1:n.1317-72C>A
ENST00000426263.7:c.868-72C>A ENSP00000416293.2:n.868-72C>A
ENST00000439722.2:c.747-72C>A ENSP00000395521.2:n.747-72C>A
ENST00000475162.3:c.415+1240C>A
ENST00000630287.2:c.*183-72C>A ENSP00000486694.1:n.*183-72C>A
NM_006516.2:c.868-72C>A NP_006507.2:n.868-72C>A
NM_006516.3:c.868-72C>A NP_006507.2:n.868-72C>A
NM_006516.4:c.868-72C>A MANE Select NP_006507.2:n.868-72C>A