Canonical Allele Identifier: CA9668037

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• ClinVar Variation Id: 330215
• ClinVar RCV Id: RCV000392333 ; RCV000595456 ; RCV003912383
• dbSNP Id: rs200775946
• ExAC: 19:55672513 C / T
• gnomAD v2: 19-55672513-C-T
• gnomAD v3: 19-55161145-C-T
• gnomAD v4: 19-55161145-C-T
• MyVariant Identifiers: chr19:g.55672513C>T (hg19) ; chr19:g.55161145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55161145C>T , CM000681.2:g.55161145C>T	GRCh38
NC_000019.9:g.55672513C>T , CM000681.1:g.55672513C>T	GRCh37
NC_000019.8:g.60364325C>T	NCBI36
NG_007866.2:g.1588G>A , LRG_432:g.1588G>A
NG_032759.1:g.10578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524407.7:c.832G>A (DNAAF3) MANE Select	ENSP00000432046.3:p.Ala278Thr
ENST00000391720.8:c.973G>A (DNAAF3)	ENSP00000375600.5:p.Ala325Thr
ENST00000455045.5:c.670G>A (DNAAF3)	ENSP00000394343.1:p.Ala224Thr
ENST00000524407.6:c.832G>A (DNAAF3)	ENSP00000432046.2:p.Ala278Thr
ENST00000526959.5:n.569G>A (DNAAF3)
ENST00000527223.6:c.1036G>A (DNAAF3)	ENSP00000436975.2:p.Ala346Thr
ENST00000527292.5:n.361G>A (DNAAF3)
ENST00000528412.5:c.*620G>A (DNAAF3)	ENSP00000433826.2:n.*620G>A
ENST00000533527.6:n.594G>A (DNAAF3)
NM_001256714.1:c.1036G>A (DNAAF3)	NP_001243643.1:p.Ala346Thr
NM_001256715.1:c.832G>A (DNAAF3)	NP_001243644.1:p.Ala278Thr
NM_001256716.1:c.670G>A (DNAAF3)	NP_001243645.1:p.Ala224Thr
NM_178837.4:c.973G>A (DNAAF3)	NP_849159.2:p.Ala325Thr
XR_430261.2:n.81C>T (DNAAF3-AS1)
XR_936074.1:n.196C>T (DNAAF3-AS1)
XR_001754014.1:n.187C>T (DNAAF3-AS1)
XR_001754015.1:n.158C>T (DNAAF3-AS1)
XR_936074.2:n.200C>T (DNAAF3-AS1)
NM_001256715.2:c.832G>A (DNAAF3) MANE Select	NP_001243644.1:p.Ala278Thr
NM_001256716.2:c.670G>A (DNAAF3)	NP_001243645.1:p.Ala224Thr