Canonical Allele Identifier: CA1665917272
Gene: AHI1 HGNC NCBI
AHI1-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497814C= , CM000668.2:g.135497814C= GRCh38
NC_000006.11:g.135818952C= , CM000668.1:g.135818952C= GRCh37
NC_000006.10:g.135860645C= NCBI36
NG_008643.1:g.4952G=
NG_008643.2:g.4952G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2330G= (AHI1) ENSP00000506426.1:n.-2330G=
ENST00000681022.1:c.-2330G= (AHI1) ENSP00000505121.1:n.-2330G=
NR_026805.1:n.14C= (AHI1-DT)
NR_152842.1:n.14C= (AHI1-DT)
NR_152843.1:n.14C= (AHI1-DT)
NR_152844.1:n.14C= (AHI1-DT)
NR_152845.1:n.14C= (AHI1-DT)