Canonical Allele Identifier: CA2739700456
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930467A>C , CM000663.2:g.42930467A>C GRCh38
NC_000001.10:g.43396138A>C , CM000663.1:g.43396138A>C GRCh37
NC_000001.9:g.43168725A>C NCBI36
NG_008232.1:g.33710T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.516+159T>G MANE Select ENSP00000416293.2:n.516+159T>G
ENST00000674765.1:c.516+159T>G ENSP00000501811.1:n.516+159T>G
ENST00000675112.1:n.539+159T>G
ENST00000676254.1:n.965+159T>G
ENST00000426263.7:c.516+159T>G ENSP00000416293.2:n.516+159T>G
ENST00000439722.2:c.395+159T>G ENSP00000395521.2:n.395+159T>G
ENST00000475162.3:c.415+159T>G
ENST00000625233.2:n.883T>G
ENST00000630287.2:c.516+159T>G ENSP00000486694.1:n.516+159T>G
NM_006516.2:c.516+159T>G NP_006507.2:n.516+159T>G
NM_006516.3:c.516+159T>G NP_006507.2:n.516+159T>G
NM_006516.4:c.516+159T>G MANE Select NP_006507.2:n.516+159T>G
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