Canonical Allele Identifier: CA407448065

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• MyVariant Identifiers: chr19:g.55670812A>T (hg19) ; chr19:g.55159444A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159444A>T , CM000681.2:g.55159444A>T	GRCh38
NC_000019.9:g.55670812A>T , CM000681.1:g.55670812A>T	GRCh37
NC_000019.8:g.60362624A>T	NCBI36
NG_007866.2:g.3289T>A , LRG_432:g.3289T>A
NG_032759.1:g.12279T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524407.7:c.1244T>A (DNAAF3) MANE Select	ENSP00000432046.3:p.Leu415Gln
ENST00000391720.8:c.1385T>A (DNAAF3)	ENSP00000375600.5:p.Leu462Gln
ENST00000455045.5:c.1082T>A (DNAAF3)	ENSP00000394343.1:p.Leu361Gln
ENST00000524407.6:c.1244T>A (DNAAF3)	ENSP00000432046.2:p.Leu415Gln
ENST00000527223.6:c.1445T>A (DNAAF3)	ENSP00000436975.2:p.Leu482Gln
ENST00000528412.5:c.*1032T>A (DNAAF3)	ENSP00000433826.2:n.*1032T>A
ENST00000533527.6:n.1006T>A (DNAAF3)
ENST00000587789.2:n.329T>A (DNAAF3)
ENST00000587871.1:c.228T>A
ENST00000588076.1:c.243T>A (DNAAF3)
NM_001256714.1:c.1445T>A (DNAAF3)	NP_001243643.1:p.Leu482Gln
NM_001256715.1:c.1244T>A (DNAAF3)	NP_001243644.1:p.Leu415Gln
NM_001256716.1:c.1082T>A (DNAAF3)	NP_001243645.1:p.Leu361Gln
NM_178837.4:c.1385T>A (DNAAF3)	NP_849159.2:p.Leu462Gln
XR_001754014.1:n.86A>T (DNAAF3-AS1)
XR_001754015.1:n.106A>T (DNAAF3-AS1)
NM_001256715.2:c.1244T>A (DNAAF3) MANE Select	NP_001243644.1:p.Leu415Gln
NM_001256716.2:c.1082T>A (DNAAF3)	NP_001243645.1:p.Leu361Gln