Canonical Allele Identifier: CA2680454934
Gene: AHI1 HGNC NCBI

Linked Data

gnomAD v4: 6-135497792-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497792G>C , CM000668.2:g.135497792G>C GRCh38
NC_000006.11:g.135818930G>C , CM000668.1:g.135818930G>C GRCh37
NC_000006.10:g.135860623G>C NCBI36
NG_008643.1:g.4974C>G
NG_008643.2:g.4974C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2308C>G ENSP00000506426.1:n.-2308C>G
ENST00000681022.1:c.-2308C>G ENSP00000505121.1:n.-2308C>G
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