Canonical Allele Identifier: CA2645198545
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42927887-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927887C>T , CM000663.2:g.42927887C>T GRCh38
NC_000001.10:g.43393558C>T , CM000663.1:g.43393558C>T GRCh37
NC_000001.9:g.43166145C>T NCBI36
NG_008232.1:g.36290G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-79G>A MANE Select ENSP00000416293.2:n.1075-79G>A
ENST00000674545.1:n.1613G>A
ENST00000674765.1:c.1030-1030G>A ENSP00000501811.1:n.1030-1030G>A
ENST00000675112.1:n.1376-79G>A
ENST00000676254.1:n.1524-79G>A
ENST00000426263.7:c.1075-79G>A ENSP00000416293.2:n.1075-79G>A
ENST00000475162.3:c.416-909G>A
ENST00000630287.2:c.*390-79G>A ENSP00000486694.1:n.*390-79G>A
NM_006516.2:c.1075-79G>A NP_006507.2:n.1075-79G>A
NM_006516.3:c.1075-79G>A NP_006507.2:n.1075-79G>A
NM_006516.4:c.1075-79G>A MANE Select NP_006507.2:n.1075-79G>A
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