Canonical Allele Identifier: CA1261040957
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610829C= , CM000664.2:g.73610829C= GRCh38
NC_000002.11:g.73837956C= , CM000664.1:g.73837956C= GRCh37
NC_000002.10:g.73691464C= NCBI36
NG_011690.1:g.230077C= , LRG_741:g.230077C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1147C=