Canonical Allele Identifier: CA2645199235
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42943037-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943037C>T , CM000663.2:g.42943037C>T GRCh38
NC_000001.10:g.43408708C>T , CM000663.1:g.43408708C>T GRCh37
NC_000001.9:g.43181295C>T NCBI36
NG_008232.1:g.21140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.114+189G>A MANE Select ENSP00000416293.2:n.114+189G>A
ENST00000674765.1:c.114+189G>A ENSP00000501811.1:n.114+189G>A
ENST00000675112.1:n.137+189G>A
ENST00000372500.4:c.19-11831G>A ENSP00000361578.4:n.19-11831G>A
ENST00000415851.6:n.331+189G>A
ENST00000426263.7:c.114+189G>A ENSP00000416293.2:n.114+189G>A
ENST00000475162.3:c.13+189G>A
ENST00000625233.2:n.322+189G>A
ENST00000628173.1:n.333+189G>A
ENST00000630287.2:c.114+189G>A ENSP00000486694.1:n.114+189G>A
ENST00000630821.1:n.520G>A
NM_006516.2:c.114+189G>A NP_006507.2:n.114+189G>A
NM_006516.3:c.114+189G>A NP_006507.2:n.114+189G>A
NM_006516.4:c.114+189G>A MANE Select NP_006507.2:n.114+189G>A