Canonical Allele Identifier: CA435003148
Gene: ATOSBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.114232449C>A
GRCh37 chr3:g.113951296C>A
gnomAD v2:
3:113951296 C / A
gnomAD v3:
3:114232449 C / A
gnomAD v4:
chr3-114232449-C-A
Joint Max Group AF 0.00122767 (MID)
Genomes Max Group AF 0.00003252 (AFR)
Exomes Max Group AF 0.00136076 (MID)
dbSNP:
905568
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.114232449C>A , CM000665.2:g.114232449C>A GRCh38
NC_000003.11:g.113951296C>A , CM000665.1:g.113951296C>A GRCh37
NC_000003.10:g.115433986C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000473625.1:n.573G>T
XR_001740856.1:n.161-893C>A
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