Canonical Allele Identifier: CA318416
Gene: SLC2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42958633C>T , CM000663.2:g.42958633C>T GRCh38
NC_000001.10:g.43424304C>T , CM000663.1:g.43424304C>T GRCh37
NC_000001.9:g.43196891C>T NCBI36
NG_008232.1:g.5544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.18+1G>A MANE Select ENSP00000416293.2:n.18+1G>A
ENST00000460369.3:c.18+1G>A ENSP00000491942.1:n.18+1G>A
ENST00000674765.1:c.18+1G>A ENSP00000501811.1:n.18+1G>A
ENST00000675112.1:n.41+1G>A
ENST00000676097.1:n.260+1G>A
ENST00000372500.4:c.18+1G>A ENSP00000361578.4:n.18+1G>A
ENST00000415851.6:n.235+1G>A
ENST00000426263.7:c.18+1G>A ENSP00000416293.2:n.18+1G>A
ENST00000460369.2:n.226+1G>A
ENST00000625233.2:n.226+1G>A
ENST00000628173.1:n.237+1G>A
ENST00000630287.2:c.18+1G>A ENSP00000486694.1:n.18+1G>A
ENST00000630821.1:n.235+1G>A
NM_006516.2:c.18+1G>A NP_006507.2:n.18+1G>A
NM_006516.3:c.18+1G>A NP_006507.2:n.18+1G>A
NM_006516.4:c.18+1G>A MANE Select NP_006507.2:n.18+1G>A
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