Canonical Allele Identifier: CA5586778
Gene: ADIRF HGNC NCBI
AGAP11 HGNC NCBI
ADIRF-AS1 HGNC NCBI
COSMIC:
COSM146987 (not active)
MyVariant.info:
GRCh38 chr10:g.86970555T>C
GRCh37 chr10:g.88730312T>C
gnomAD v2:
10:88730312 T / C
gnomAD v3:
10:86970555 T / C
gnomAD v4:
chr10-86970555-T-C
Joint Max Group AF 0.78087971 (EAS)
Genomes Max Group AF 0.77218419 (EAS)
Exomes Max Group AF 0.77983808 (EAS)
dbSNP:
4869
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.86970555T>C , CM000672.2:g.86970555T>C GRCh38
NC_000010.10:g.88730312T>C , CM000672.1:g.88730312T>C GRCh37
NC_000010.9:g.88720292T>C NCBI36
NG_032913.2:g.3927A>G
NG_032913.3:g.3927A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372013.8:c.204T>C (ADIRF) MANE Select ENSP00000361083.3:p.Ile68=
ENST00000372013.7:c.204T>C (ADIRF) ENSP00000361083.3:p.Ile68=
ENST00000561504.1:c.204T>C (ADIRF) ENSP00000475582.1:p.Ile68=
NM_006829.2:c.204T>C (ADIRF) NP_006820.1:p.Ile68=
NM_006829.3:c.204T>C (ADIRF) MANE Select NP_006820.1:p.Ile68=
NM_133447.2:c.-1390T>C (AGAP11) NP_597704.1:n.-1390T>C
NR_170177.1:n.237A>G (ADIRF-AS1)
NR_170178.1:n.203A>G (ADIRF-AS1)
NR_170179.1:n.237A>G (ADIRF-AS1)
NR_170180.1:n.237A>G (ADIRF-AS1)
NR_170181.1:n.237A>G (ADIRF-AS1)
NR_170182.1:n.237A>G (ADIRF-AS1)
NR_170183.1:n.686A>G (ADIRF-AS1)
NR_170184.1:n.686A>G (ADIRF-AS1)
NR_170185.1:n.686A>G (ADIRF-AS1)
NR_171046.1:n.220T>C (AGAP11)
Search 100 bp 5'
Search 100 bp 3'