ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA14745744
Gene: PPIAP59
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr19:g.50927340A>G
GRCh37
chr19:g.51430596A>G
Linked Data - Sequence & Population
gnomAD v2:
19:51430596 A / G
gnomAD v3:
19:50927340 A / G
gnomAD v4:
chr19-50927340-A-G
Joint Max Group AF
0.09887406 (AFR)
Genomes Max Group AF
0.09803113 (AFR)
Exomes Max Group AF
0.09817503 (AFR)
Linked Data - NCBI & NCI
dbSNP:
7245858
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.50927340A>G , CM000681.2:g.50927340A>G
GRCh38
NC_000019.9:g.51430596A>G , CM000681.1:g.51430596A>G
GRCh37
NC_000019.8:g.56122408A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000596021.1:n.232T>C
Search 100 bp 5'
Search 100 bp 3'