Canonical Allele Identifier: CA2581779441
Gene: ALMS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1146A>C