Canonical Allele Identifier: CA1261040919
Gene: ALMS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1076C=
ENST00000490821.1:n.543C=