Canonical Allele Identifier: CA1001076569
Gene: SLC2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1643455151
gnomAD v3: 1-42928845-C-T
gnomAD v4: 1-42928845-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42928845C>T , CM000663.2:g.42928845C>T GRCh38
NC_000001.10:g.43394516C>T , CM000663.1:g.43394516C>T GRCh37
NC_000001.9:g.43167103C>T NCBI36
NG_008232.1:g.35332G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1074+87G>A MANE Select ENSP00000416293.2:n.1074+87G>A
ENST00000674545.1:n.655G>A
ENST00000674765.1:c.1029+132G>A ENSP00000501811.1:n.1029+132G>A
ENST00000675112.1:n.1375+87G>A
ENST00000676254.1:n.1523+87G>A
ENST00000426263.7:c.1074+87G>A ENSP00000416293.2:n.1074+87G>A
ENST00000475162.3:c.415+1781G>A
ENST00000630287.2:c.*389+87G>A ENSP00000486694.1:n.*389+87G>A
NM_006516.2:c.1074+87G>A NP_006507.2:n.1074+87G>A
NM_006516.3:c.1074+87G>A NP_006507.2:n.1074+87G>A
NM_006516.4:c.1074+87G>A MANE Select NP_006507.2:n.1074+87G>A
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