Canonical Allele Identifier: CA50344495
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs6546857
gnomAD v2: 2-73837955-A-G
gnomAD v3: 2-73610828-A-G
gnomAD v4: 2-73610828-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610828A>G , CM000664.2:g.73610828A>G GRCh38
NC_000002.11:g.73837955A>G , CM000664.1:g.73837955A>G GRCh37
NC_000002.10:g.73691463A>G NCBI36
NG_011690.1:g.230076A>G , LRG_741:g.230076A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000651434.1:c.3933+1146A>G