Canonical Allele Identifier: CA2645199316
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42943135-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943135C>A , CM000663.2:g.42943135C>A GRCh38
NC_000001.10:g.43408806C>A , CM000663.1:g.43408806C>A GRCh37
NC_000001.9:g.43181393C>A NCBI36
NG_008232.1:g.21042G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.114+91G>T MANE Select ENSP00000416293.2:n.114+91G>T
ENST00000674765.1:c.114+91G>T ENSP00000501811.1:n.114+91G>T
ENST00000675112.1:n.137+91G>T
ENST00000372500.4:c.19-11929G>T ENSP00000361578.4:n.19-11929G>T
ENST00000415851.6:n.331+91G>T
ENST00000426263.7:c.114+91G>T ENSP00000416293.2:n.114+91G>T
ENST00000475162.3:c.13+91G>T
ENST00000625233.2:n.322+91G>T
ENST00000628173.1:n.333+91G>T
ENST00000630287.2:c.114+91G>T ENSP00000486694.1:n.114+91G>T
ENST00000630821.1:n.422G>T
NM_006516.2:c.114+91G>T NP_006507.2:n.114+91G>T
NM_006516.3:c.114+91G>T NP_006507.2:n.114+91G>T
NM_006516.4:c.114+91G>T MANE Select NP_006507.2:n.114+91G>T