Canonical Allele Identifier: CA4110766

Gene: DNAAF5

Linked Data

• ClinVar Variation Id: 410302
• ClinVar RCV Id: RCV000463290 ; RCV000764723 ; RCV003235226
• dbSNP Id: rs144405450
• ExAC: 7:801418 G / T
• gnomAD v2: 7-801418-G-T
• gnomAD v3: 7-761781-G-T
• gnomAD v4: 7-761781-G-T
• MyVariant Identifiers: chr7:g.801418G>T (hg19) ; chr7:g.761781G>T (hg38)

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