Canonical Allele Identifier: CA10326602
Gene: ACR HGNC NCBI
COSMIC:
COSM5426231 (not active)
MyVariant.info:
GRCh38 chr22:g.50744057A>G
GRCh37 chr22:g.51182485A>G
gnomAD v2:
22:51182485 A / G
gnomAD v3:
22:50744057 A / G
gnomAD v4:
chr22-50744057-A-G
Joint Max Group AF 0.8783149 (AFR)
Genomes Max Group AF 0.86965141 (AFR)
Exomes Max Group AF 0.88418469 (AFR)
ClinVar RCV:
RCV000456024
RCV000948143
ClinVar Variation:
402335
dbSNP:
6009961
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50744057A>G , CM000684.2:g.50744057A>G GRCh38
NC_000022.10:g.51182485A>G , CM000684.1:g.51182485A>G GRCh37
NC_000022.9:g.49529351A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000216139.10:c.566-4A>G MANE Select ENSP00000216139.5:n.566-4A>G
ENST00000216139.9:c.566-4A>G ENSP00000216139.5:n.566-4A>G
NM_001097.2:c.566-4A>G NP_001088.2:n.566-4A>G
NM_001097.3:c.566-4A>G MANE Select NP_001088.2:n.566-4A>G
Search 100 bp 5'
Search 100 bp 3'