Canonical Allele Identifier: CA803640
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 538683
dbSNP Id: rs376653618
gnomAD v2: 1-43408997-G-A
gnomAD v3: 1-42943326-G-A
gnomAD v4: 1-42943326-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42943326G>A , CM000663.2:g.42943326G>A GRCh38
NC_000001.10:g.43408997G>A , CM000663.1:g.43408997G>A GRCh37
NC_000001.9:g.43181584G>A NCBI36
NG_008232.1:g.20851C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.19-5C>T MANE Select ENSP00000416293.2:n.19-5C>T
ENST00000674765.1:c.19-5C>T ENSP00000501811.1:n.19-5C>T
ENST00000675112.1:n.42-5C>T
ENST00000372500.4:c.19-12120C>T ENSP00000361578.4:n.19-12120C>T
ENST00000415851.6:n.236-5C>T
ENST00000426263.7:c.19-5C>T ENSP00000416293.2:n.19-5C>T
ENST00000625233.2:n.227-5C>T
ENST00000628173.1:n.238-5C>T
ENST00000630287.2:c.19-5C>T ENSP00000486694.1:n.19-5C>T
ENST00000630821.1:n.236-5C>T
NM_006516.2:c.19-5C>T NP_006507.2:n.19-5C>T
NM_006516.3:c.19-5C>T NP_006507.2:n.19-5C>T
NM_006516.4:c.19-5C>T MANE Select NP_006507.2:n.19-5C>T