Canonical Allele Identifier: CA2645199624
Gene: SLC2A1 HGNC NCBI

Linked Data

gnomAD v4: 1-42930220-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930220C>T , CM000663.2:g.42930220C>T GRCh38
NC_000001.10:g.43395891C>T , CM000663.1:g.43395891C>T GRCh37
NC_000001.9:g.43168478C>T NCBI36
NG_008232.1:g.33957G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.517-185G>A MANE Select ENSP00000416293.2:n.517-185G>A
ENST00000674765.1:c.517-185G>A ENSP00000501811.1:n.517-185G>A
ENST00000675112.1:n.540-185G>A
ENST00000676254.1:n.966-185G>A
ENST00000426263.7:c.517-185G>A ENSP00000416293.2:n.517-185G>A
ENST00000439722.2:c.396-185G>A ENSP00000395521.2:n.396-185G>A
ENST00000475162.3:c.415+406G>A
ENST00000630287.2:c.516+406G>A ENSP00000486694.1:n.516+406G>A
NM_006516.2:c.517-185G>A NP_006507.2:n.517-185G>A
NM_006516.3:c.517-185G>A NP_006507.2:n.517-185G>A
NM_006516.4:c.517-185G>A MANE Select NP_006507.2:n.517-185G>A
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