Canonical Allele Identifier: CA452213888
Gene: AHI1 HGNC NCBI
AHI1-DT HGNC NCBI

Linked Data

gnomAD v4: 6-135497856-C-T
MyVariant Identifiers: chr6:g.135818994C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497856C>T , CM000668.2:g.135497856C>T GRCh38
NC_000006.11:g.135818994C>T , CM000668.1:g.135818994C>T GRCh37
NC_000006.10:g.135860687C>T NCBI36
NG_008643.1:g.4910G>A
NG_008643.2:g.4910G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2372G>A (AHI1) ENSP00000506426.1:n.-2372G>A
ENST00000681022.1:c.-2372G>A (AHI1) ENSP00000505121.1:n.-2372G>A
NR_026805.1:n.56C>T (AHI1-DT)
NR_152842.1:n.56C>T (AHI1-DT)
NR_152843.1:n.56C>T (AHI1-DT)
NR_152844.1:n.56C>T (AHI1-DT)
NR_152845.1:n.56C>T (AHI1-DT)
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