Canonical Allele Identifier: CA2659622535
Gene: ALMS1 HGNC NCBI

Linked Data

gnomAD v4: 2-73610855-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610855G>T , CM000664.2:g.73610855G>T GRCh38
NC_000002.11:g.73837982G>T , CM000664.1:g.73837982G>T GRCh37
NC_000002.10:g.73691490G>T NCBI36
NG_011690.1:g.230103G>T , LRG_741:g.230103G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1173G>T