Canonical Allele Identifier: CA11646497
Gene: RPL22P13 HGNC NCBI
COSMIC:
COSN15314101 (not active)
MyVariant.info:
GRCh38 chr4:g.54221414C>A
GRCh37 chr4:g.55087581C>A
gnomAD v2:
4:55087581 C / A
gnomAD v3:
4:54221414 C / A
gnomAD v4:
chr4-54221414-C-A
Joint Max Group AF 0.3334904 (AMR)
Genomes Max Group AF 0.32347272 (AMR)
Exomes Max Group AF 0.33896816 (AMR)
dbSNP:
17084051
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54221414C>A , CM000666.2:g.54221414C>A GRCh38
NC_000004.11:g.55087581C>A , CM000666.1:g.55087581C>A GRCh37
NC_000004.10:g.54782338C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000493291.1:n.289C>A
ENST00000507166.5:c.1018-53511C>A ENSP00000423325.1:n.1018-53511C>A
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