Canonical Allele Identifier: CA2739700539
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930534A>G , CM000663.2:g.42930534A>G GRCh38
NC_000001.10:g.43396205A>G , CM000663.1:g.43396205A>G GRCh37
NC_000001.9:g.43168792A>G NCBI36
NG_008232.1:g.33643T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.516+92T>C MANE Select ENSP00000416293.2:n.516+92T>C
ENST00000674765.1:c.516+92T>C ENSP00000501811.1:n.516+92T>C
ENST00000675112.1:n.539+92T>C
ENST00000676254.1:n.965+92T>C
ENST00000426263.7:c.516+92T>C ENSP00000416293.2:n.516+92T>C
ENST00000439722.2:c.395+92T>C ENSP00000395521.2:n.395+92T>C
ENST00000475162.3:c.415+92T>C
ENST00000625233.2:n.816T>C
ENST00000630287.2:c.516+92T>C ENSP00000486694.1:n.516+92T>C
NM_006516.2:c.516+92T>C NP_006507.2:n.516+92T>C
NM_006516.3:c.516+92T>C NP_006507.2:n.516+92T>C
NM_006516.4:c.516+92T>C MANE Select NP_006507.2:n.516+92T>C
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