Canonical Allele Identifier: CA533679444
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs1184789170
gnomAD v2: 2-73837885-C-T
gnomAD v3: 2-73610758-C-T
gnomAD v4: 2-73610758-C-T
MyVariant Identifiers: chr2:g.73837885C>T (hg19) chr2:g.73610758C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610758C>T , CM000664.2:g.73610758C>T GRCh38
NC_000002.11:g.73837885C>T , CM000664.1:g.73837885C>T GRCh37
NC_000002.10:g.73691393C>T NCBI36
NG_011690.1:g.230006C>T , LRG_741:g.230006C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000651434.1:c.3933+1076C>T
ENST00000490821.1:n.543C>T
Search 100 bp 5'
Search 100 bp 3'