Canonical Allele Identifier: CA2659622528
Gene: ALMS1 HGNC NCBI

Linked Data

gnomAD v4: 2-73610846-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610846C>A , CM000664.2:g.73610846C>A GRCh38
NC_000002.11:g.73837973C>A , CM000664.1:g.73837973C>A GRCh37
NC_000002.10:g.73691481C>A NCBI36
NG_011690.1:g.230094C>A , LRG_741:g.230094C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000651434.1:c.3933+1164C>A
Search 100 bp 5'
Search 100 bp 3'