Canonical Allele Identifier: CA1715916
Gene: ALMS1P1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73673773T>C
GRCh37 chr2:g.73900900T>C
gnomAD v2:
2:73900900 T / C
gnomAD v3:
2:73673773 T / C
gnomAD v4:
chr2-73673773-T-C
Joint Max Group AF 0.53759528 (AFR)
Genomes Max Group AF 0.53578109 (AFR)
Exomes Max Group AF 0.53539147 (AFR)
dbSNP:
10206899
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73673773T>C , CM000664.2:g.73673773T>C GRCh38
NC_000002.11:g.73900900T>C , CM000664.1:g.73900900T>C GRCh37
NC_000002.10:g.73754408T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000652439.1:n.795-40T>C
ENST00000428767.1:n.550-40T>C
ENST00000450720.5:n.738-40T>C
NR_003683.2:n.738-40T>C
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