Canonical Allele Identifier: CA4111169
Gene: DNAAF5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.780058A>G
GRCh37 chr7:g.819695A>G
Revel Score:
ENST00000297440 (MANE Select) 0.175
ENST00000313147 0.175
ENST00000537862 0.175
ENST00000403952 0.175
gnomAD v2:
7:819695 A / G
gnomAD v3:
7:780058 A / G
gnomAD v4:
chr7-780058-A-G
Joint Max Group AF 0.00094431 (NFE)
Genomes Max Group AF 0.00067715 (NFE)
Exomes Max Group AF 0.00095088 (NFE)
ClinVar RCV:
RCV000788150
RCV001082767
ClinVar Variation:
416084
dbSNP:
61755909
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.780058A>G , CM000669.2:g.780058A>G GRCh38
NC_000007.13:g.819695A>G , CM000669.1:g.819695A>G GRCh37
NC_000007.12:g.786221A>G NCBI36
NG_033137.1:g.58358A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297440.11:c.2345A>G MANE Select ENSP00000297440.6:p.Tyr782Cys
ENST00000297440.10:c.2345A>G ENSP00000297440.6:p.Tyr782Cys
ENST00000403952.3:c.620A>G ENSP00000384884.3:p.Tyr207Cys
ENST00000440747.5:c.1749A>G
ENST00000461576.1:n.155A>G
NM_017802.3:c.2345A>G NP_060272.3:p.Tyr782Cys
NR_075098.1:n.2303A>G
XM_024446813.1:c.2239+4896A>G XP_024302581.1:n.2239+4896A>G
XM_024446814.1:c.1739A>G XP_024302582.1:p.Tyr580Cys
NM_017802.4:c.2345A>G MANE Select NP_060272.3:p.Tyr782Cys
NR_075098.2:n.2305A>G
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