Canonical Allele Identifier: CA4110458
Gene: DNAAF5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.740819G>A
GRCh37 chr7:g.780456G>A
Revel Score:
ENST00000437419 0.645
ENST00000440747 0.645
ENST00000297440 (MANE Select) 0.381
ENST00000313147 0.381
ENST00000537862 0.381
gnomAD v2:
7:780456 G / A
gnomAD v3:
7:740819 G / A
gnomAD v4:
chr7-740819-G-A
Joint Max Group AF 0.00082329 (NFE)
Genomes Max Group AF 0.00082129 (NFE)
Exomes Max Group AF 0.00081387 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.740819G>A , CM000669.2:g.740819G>A GRCh38
NC_000007.13:g.780456G>A , CM000669.1:g.780456G>A GRCh37
NC_000007.12:g.746982G>A NCBI36
NG_033137.1:g.19119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297440.11:c.781G>A MANE Select ENSP00000297440.6:p.Val261Ile
ENST00000297440.10:c.781G>A ENSP00000297440.6:p.Val261Ile
ENST00000437419.5:c.98G>A
ENST00000438961.1:n.250G>A
ENST00000440747.5:c.185G>A
NM_017802.3:c.781G>A NP_060272.3:p.Val261Ile
NR_075098.1:n.739G>A
XM_024446813.1:c.781G>A XP_024302581.1:p.Val261Ile
XM_024446814.1:c.175G>A XP_024302582.1:p.Val59Ile
NM_017802.4:c.781G>A MANE Select NP_060272.3:p.Val261Ile
NR_075098.2:n.741G>A
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