Canonical Allele Identifier: CA570555679
Gene: AHI1 HGNC NCBI

Linked Data

dbSNP Id: rs1203464919
gnomAD v2: 6-135818933-G-A
gnomAD v3: 6-135497795-G-A
gnomAD v4: 6-135497795-G-A
MyVariant Identifiers: chr6:g.135818933G>A (hg19) chr6:g.135497795G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497795G>A , CM000668.2:g.135497795G>A GRCh38
NC_000006.11:g.135818933G>A , CM000668.1:g.135818933G>A GRCh37
NC_000006.10:g.135860626G>A NCBI36
NG_008643.1:g.4971C>T
NG_008643.2:g.4971C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2311C>T ENSP00000506426.1:n.-2311C>T
ENST00000681022.1:c.-2311C>T ENSP00000505121.1:n.-2311C>T
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