Canonical Allele Identifier: CA9668334
Gene: DNAAF3 HGNC NCBI
COSMIC:
COSM4985281 (not active)
COSM4985282 (not active)
MyVariant.info:
GRCh38 chr19:g.55166647A>G
GRCh37 chr19:g.55678015A>G
Revel Score:
ENST00000301249 0.109
ENST00000391720 0.109
ENST00000528476 0.109
gnomAD v2:
19:55678015 A / G
gnomAD v3:
19:55166647 A / G
gnomAD v4:
chr19-55166647-A-G
Joint Max Group AF 0.00332061 (AFR)
Genomes Max Group AF 0.00378925 (AFR)
Exomes Max Group AF 0.00243036 (AFR)
ClinVar RCV:
RCV000463492
RCV003480649
ClinVar Variation:
416072
dbSNP:
200365972
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55166647A>G , CM000681.2:g.55166647A>G GRCh38
NC_000019.9:g.55678015A>G , CM000681.1:g.55678015A>G GRCh37
NC_000019.8:g.60369827A>G NCBI36
NG_032759.1:g.5076T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391720.8:c.2T>C ENSP00000375600.5:p.Met1Thr
ENST00000455045.5:c.-378T>C ENSP00000394343.1:n.-378T>C
ENST00000527223.6:c.2T>C ENSP00000436975.2:p.Met1Thr
ENST00000528476.1:n.76T>C
NM_001256714.1:c.2T>C NP_001243643.1:p.Met1Thr
NM_001256715.1:c.-129T>C NP_001243644.1:n.-129T>C
NM_001256716.1:c.-378T>C NP_001243645.1:n.-378T>C
NM_178837.4:c.2T>C NP_849159.2:p.Met1Thr
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