Canonical Allele Identifier: CA4110766
Gene: DNAAF5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.761781G>T
GRCh37 chr7:g.801418G>T
Revel Score:
ENST00000297440 (MANE Select) 0.508
ENST00000313147 0.508
ENST00000537862 0.508
gnomAD v2:
7:801418 G / T
gnomAD v3:
7:761781 G / T
gnomAD v4:
chr7-761781-G-T
Joint Max Group AF 0.00023711 (NFE)
Genomes Max Group AF 0.00010173 (NFE)
Exomes Max Group AF 0.00024167 (NFE)
ClinVar Allele:
396135
ClinVar RCV:
RCV000463290
RCV000764723
RCV003235226
ClinVar Variation:
410302
dbSNP:
144405450
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.761781G>T , CM000669.2:g.761781G>T GRCh38
NC_000007.13:g.801418G>T , CM000669.1:g.801418G>T GRCh37
NC_000007.12:g.767944G>T NCBI36
NG_033137.1:g.40081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297440.11:c.1499G>T MANE Select ENSP00000297440.6:p.Cys500Phe
ENST00000297440.10:c.1499G>T ENSP00000297440.6:p.Cys500Phe
ENST00000440747.5:c.903G>T
NM_017802.3:c.1499G>T NP_060272.3:p.Cys500Phe
NR_075098.1:n.1457G>T
XM_024446813.1:c.1499G>T XP_024302581.1:p.Cys500Phe
XM_024446814.1:c.893G>T XP_024302582.1:p.Cys298Phe
NM_017802.4:c.1499G>T MANE Select NP_060272.3:p.Cys500Phe
NR_075098.2:n.1459G>T
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