Canonical Allele Identifier: CA4110463
Gene: DNAAF5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.740826G>A
GRCh37 chr7:g.780463G>A
Revel Score:
ENST00000297440 (MANE Select) 0.041
ENST00000313147 0.041
ENST00000537862 0.041
gnomAD v2:
7:780463 G / A
gnomAD v3:
7:740826 G / A
gnomAD v4:
chr7-740826-G-A
Joint Max Group AF 0.00152442 (MID)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.0014666 (MID)
ClinVar RCV:
RCV001330783
RCV002413430
ClinVar Variation:
454869
dbSNP:
201059622
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.740826G>A , CM000669.2:g.740826G>A GRCh38
NC_000007.13:g.780463G>A , CM000669.1:g.780463G>A GRCh37
NC_000007.12:g.746989G>A NCBI36
NG_033137.1:g.19126G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297440.11:c.788G>A MANE Select ENSP00000297440.6:p.Arg263Gln
ENST00000297440.10:c.788G>A ENSP00000297440.6:p.Arg263Gln
ENST00000437419.5:c.105G>A
ENST00000438961.1:n.257G>A
ENST00000440747.5:c.192G>A
NM_017802.3:c.788G>A NP_060272.3:p.Arg263Gln
NR_075098.1:n.746G>A
XM_024446813.1:c.788G>A XP_024302581.1:p.Arg263Gln
XM_024446814.1:c.182G>A XP_024302582.1:p.Arg61Gln
NM_017802.4:c.788G>A MANE Select NP_060272.3:p.Arg263Gln
NR_075098.2:n.748G>A
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