Canonical Allele Identifier: CA2659622533
Gene: ALMS1 HGNC NCBI

Linked Data

gnomAD v4: 2-73610854-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610854T>C , CM000664.2:g.73610854T>C GRCh38
NC_000002.11:g.73837981T>C , CM000664.1:g.73837981T>C GRCh37
NC_000002.10:g.73691489T>C NCBI36
NG_011690.1:g.230102T>C , LRG_741:g.230102T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1172T>C