ClinGen Allele Registry
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Canonical Allele Identifier:
CA14804101
Gene: RPS4XP2
HGNC
NCBI
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr20:g.4631231G>A
GRCh37
chr20:g.4611877G>A
Linked Data - Sequence & Population
gnomAD v2:
20:4611877 G / A
gnomAD v3:
20:4631231 G / A
gnomAD v4:
chr20-4631231-G-A
Joint Max Group AF
0.75677508 (AFR)
Genomes Max Group AF
0.75677508 (AFR)
Linked Data - NCBI & NCI
dbSNP:
6052699
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.4631231G>A , CM000682.2:g.4631231G>A
GRCh38
NC_000020.10:g.4611877G>A , CM000682.1:g.4611877G>A
GRCh37
NC_000020.9:g.4559877G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000652447.1:n.88-1010C>T
Search 100 bp 5'
Search 100 bp 3'