Canonical Allele Identifier: CA1261040960
Gene: ALMS1 HGNC NCBI

Linked Data

dbSNP Id: rs1675926138

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73610831A>C , CM000664.2:g.73610831A>C GRCh38
NC_000002.11:g.73837958A>C , CM000664.1:g.73837958A>C GRCh37
NC_000002.10:g.73691466A>C NCBI36
NG_011690.1:g.230079A>C , LRG_741:g.230079A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000651434.1:c.3933+1149A>C