Canonical Allele Identifier: CA2680454908
Gene: AHI1 HGNC NCBI

Linked Data

gnomAD v4: 6-135497777-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497777G>A , CM000668.2:g.135497777G>A GRCh38
NC_000006.11:g.135818915G>A , CM000668.1:g.135818915G>A GRCh37
NC_000006.10:g.135860608G>A NCBI36
NG_008643.1:g.4989C>T
NG_008643.2:g.4989C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2293C>T ENSP00000506426.1:n.-2293C>T
ENST00000681022.1:c.-2293C>T ENSP00000505121.1:n.-2293C>T
ENST00000681340.1:c.-482C>T ENSP00000505666.1:n.-482C>T
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