Canonical Allele Identifier: CA1261040913
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610736G= , CM000664.2:g.73610736G= GRCh38
NC_000002.11:g.73837863G= , CM000664.1:g.73837863G= GRCh37
NC_000002.10:g.73691371G= NCBI36
NG_011690.1:g.229984G= , LRG_741:g.229984G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1054G=
ENST00000490821.1:n.521G=