Canonical Allele Identifier: CA1665971737
Gene: AHI1-DT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NR_026805.1:n.420+7436C=
NR_152842.1:n.534+7436C=
NR_152844.1:n.534+7436C=
NR_152845.1:n.658+7436C=