Canonical Allele Identifier: CA16281117
Gene: AHI1-DT HGNC NCBI

Linked Data

dbSNP Id: rs9389316
gnomAD v2: 6-136001003-C-A
gnomAD v3: 6-135679865-C-A
gnomAD v4: 6-135679865-C-A
MyVariant Identifiers: chr6:g.136001003C>A (hg19) chr6:g.135679865C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135679865C>A , CM000668.2:g.135679865C>A GRCh38
NC_000006.11:g.136001003C>A , CM000668.1:g.136001003C>A GRCh37
NC_000006.10:g.136042696C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_026805.1:n.420+7436C>A
NR_152842.1:n.534+7436C>A
NR_152844.1:n.534+7436C>A
NR_152845.1:n.658+7436C>A
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