Canonical Allele Identifier: CA2743369552
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927827A>T , CM000663.2:g.42927827A>T GRCh38
NC_000001.10:g.43393498A>T , CM000663.1:g.43393498A>T GRCh37
NC_000001.9:g.43166085A>T NCBI36
NG_008232.1:g.36350T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1075-19T>A MANE Select ENSP00000416293.2:n.1075-19T>A
ENST00000674545.1:n.1673T>A
ENST00000674765.1:c.1030-970T>A ENSP00000501811.1:n.1030-970T>A
ENST00000675112.1:n.1376-19T>A
ENST00000676254.1:n.1524-19T>A
ENST00000426263.7:c.1075-19T>A ENSP00000416293.2:n.1075-19T>A
ENST00000475162.3:c.416-849T>A
ENST00000630287.2:c.*390-19T>A ENSP00000486694.1:n.*390-19T>A
NM_006516.2:c.1075-19T>A NP_006507.2:n.1075-19T>A
NM_006516.3:c.1075-19T>A NP_006507.2:n.1075-19T>A
NM_006516.4:c.1075-19T>A MANE Select NP_006507.2:n.1075-19T>A
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