Canonical Allele Identifier: CA148130435
Gene: AHI1 HGNC NCBI

Linked Data

dbSNP Id: rs977822984
gnomAD v4: 6-135497779-G-T
MyVariant Identifiers: chr6:g.135818917G>T (hg19) chr6:g.135497779G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135497779G>T , CM000668.2:g.135497779G>T GRCh38
NC_000006.11:g.135818917G>T , CM000668.1:g.135818917G>T GRCh37
NC_000006.10:g.135860610G>T NCBI36
NG_008643.1:g.4987C>A
NG_008643.2:g.4987C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000680033.1:c.-2295C>A ENSP00000506426.1:n.-2295C>A
ENST00000681022.1:c.-2295C>A ENSP00000505121.1:n.-2295C>A
ENST00000681340.1:c.-484C>A ENSP00000505666.1:n.-484C>A
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