Canonical Allele Identifier: CA4111031
Gene: DNAAF5 HGNC NCBI
COSMIC:
COSM5407949 (not active)
COSM5407950 (not active)
MyVariant.info:
GRCh38 chr7:g.774092C>T
GRCh37 chr7:g.813729C>T
Revel Score:
ENST00000297440 (MANE Select) 0.063
ENST00000313147 0.063
ENST00000537862 0.063
ENST00000403952 0.063
gnomAD v2:
7:813729 C / T
gnomAD v3:
7:774092 C / T
gnomAD v4:
chr7-774092-C-T
Joint Max Group AF 0.00009211 (AFR)
Genomes Max Group AF 0.00009562 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
ClinVar RCV:
RCV000532406
ClinVar Variation:
454856
dbSNP:
137924231
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.774092C>T , CM000669.2:g.774092C>T GRCh38
NC_000007.13:g.813729C>T , CM000669.1:g.813729C>T GRCh37
NC_000007.12:g.780255C>T NCBI36
NG_033137.1:g.52392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297440.11:c.1976C>T MANE Select ENSP00000297440.6:p.Ala659Val
ENST00000297440.10:c.1976C>T ENSP00000297440.6:p.Ala659Val
ENST00000403952.3:c.251C>T ENSP00000384884.3:p.Ala84Val
ENST00000440747.5:c.1380C>T
NM_017802.3:c.1976C>T NP_060272.3:p.Ala659Val
NR_075098.1:n.1934C>T
XM_024446813.1:c.1976C>T XP_024302581.1:p.Ala659Val
XM_024446814.1:c.1370C>T XP_024302582.1:p.Ala457Val
NM_017802.4:c.1976C>T MANE Select NP_060272.3:p.Ala659Val
NR_075098.2:n.1936C>T
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