Canonical Allele Identifier: CA1665917250
Gene: AHI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497776A= , CM000668.2:g.135497776A= GRCh38
NC_000006.11:g.135818914A= , CM000668.1:g.135818914A= GRCh37
NC_000006.10:g.135860607A= NCBI36
NG_008643.1:g.4990T=
NG_008643.2:g.4990T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2292T= ENSP00000506426.1:n.-2292T=
ENST00000681022.1:c.-2292T= ENSP00000505121.1:n.-2292T=
ENST00000681340.1:c.-481T= ENSP00000505666.1:n.-481T=
ENST00000265602.10:c.-395T= ENSP00000265602.6:n.-395T=