Canonical Allele Identifier: CA2645198926
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42929326-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929326G>A , CM000663.2:g.42929326G>A GRCh38
NC_000001.10:g.43394997G>A , CM000663.1:g.43394997G>A GRCh37
NC_000001.9:g.43167584G>A NCBI36
NG_008232.1:g.34851C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.868-12C>T MANE Select ENSP00000416293.2:n.868-12C>T
ENST00000674545.1:n.174C>T
ENST00000674765.1:c.868-12C>T ENSP00000501811.1:n.868-12C>T
ENST00000675112.1:n.1157C>T
ENST00000676254.1:n.1317-12C>T
ENST00000426263.7:c.868-12C>T ENSP00000416293.2:n.868-12C>T
ENST00000439722.2:c.747-12C>T ENSP00000395521.2:n.747-12C>T
ENST00000475162.3:c.415+1300C>T
ENST00000630287.2:c.*183-12C>T ENSP00000486694.1:n.*183-12C>T
NM_006516.2:c.868-12C>T NP_006507.2:n.868-12C>T
NM_006516.3:c.868-12C>T NP_006507.2:n.868-12C>T
NM_006516.4:c.868-12C>T MANE Select NP_006507.2:n.868-12C>T