Canonical Allele Identifier: CA2645198942
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42929359-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929359C>A , CM000663.2:g.42929359C>A GRCh38
NC_000001.10:g.43395030C>A , CM000663.1:g.43395030C>A GRCh37
NC_000001.9:g.43167617C>A NCBI36
NG_008232.1:g.34818G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.868-45G>T MANE Select ENSP00000416293.2:n.868-45G>T
ENST00000674545.1:n.141G>T
ENST00000674765.1:c.868-45G>T ENSP00000501811.1:n.868-45G>T
ENST00000675112.1:n.1124G>T
ENST00000676254.1:n.1317-45G>T
ENST00000426263.7:c.868-45G>T ENSP00000416293.2:n.868-45G>T
ENST00000439722.2:c.747-45G>T ENSP00000395521.2:n.747-45G>T
ENST00000475162.3:c.415+1267G>T
ENST00000630287.2:c.*183-45G>T ENSP00000486694.1:n.*183-45G>T
NM_006516.2:c.868-45G>T NP_006507.2:n.868-45G>T
NM_006516.3:c.868-45G>T NP_006507.2:n.868-45G>T
NM_006516.4:c.868-45G>T MANE Select NP_006507.2:n.868-45G>T