Canonical Allele Identifier: CA1261040921
Gene: ALMS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610766A= , CM000664.2:g.73610766A= GRCh38
NC_000002.11:g.73837893A= , CM000664.1:g.73837893A= GRCh37
NC_000002.10:g.73691401A= NCBI36
NG_011690.1:g.230014A= , LRG_741:g.230014A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1084A=
ENST00000490821.1:n.551A=