Canonical Allele Identifier: CA533679442

Gene: ALMS1

Linked Data

• dbSNP Id: rs1486889588
• gnomAD v2: 2-73837865-G-C
• gnomAD v3: 2-73610738-G-C
• gnomAD v4: 2-73610738-G-C
• MyVariant Identifiers: chr2:g.73837865G>C (hg19) ; chr2:g.73610738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73610738G>C , CM000664.2:g.73610738G>C	GRCh38
NC_000002.11:g.73837865G>C , CM000664.1:g.73837865G>C	GRCh37
NC_000002.10:g.73691373G>C	NCBI36
NG_011690.1:g.229986G>C , LRG_741:g.229986G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651434.1:c.3933+1056G>C
ENST00000490821.1:n.523G>C