Canonical Allele Identifier: CA407446555

Gene: DNAAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159311T>G , CM000681.2:g.55159311T>G	GRCh38
NC_000019.9:g.55670679T>G , CM000681.1:g.55670679T>G	GRCh37
NC_000019.8:g.60362491T>G	NCBI36
NG_007866.2:g.3422A>C , LRG_432:g.3422A>C
NG_032759.1:g.12412A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.1377A>C MANE Select	NP_001243644.1:p.Glu459Asp
ENST00000524407.7:c.1377A>C MANE Select	ENSP00000432046.3:p.Glu459Asp
NM_001256714.1:c.1578A>C	NP_001243643.1:p.Glu526Asp
NM_001256715.1:c.1377A>C	NP_001243644.1:p.Glu459Asp
NM_001256716.1:c.1215A>C	NP_001243645.1:p.Glu405Asp
NM_001256716.2:c.1215A>C	NP_001243645.1:p.Glu405Asp
NM_178837.4:c.1518A>C	NP_849159.2:p.Glu506Asp
ENST00000391720.8:c.1518A>C	ENSP00000375600.5:p.Glu506Asp
ENST00000455045.5:c.1215A>C	ENSP00000394343.1:p.Glu405Asp
ENST00000524407.6:c.1377A>C	ENSP00000432046.2:p.Glu459Asp
ENST00000527223.6:c.1578A>C	ENSP00000436975.2:p.Glu526Asp
ENST00000528412.5:c.*1165A>C	ENSP00000433826.2:n.*1165A>C
ENST00000533527.6:n.1139A>C
ENST00000587789.2:n.462A>C
ENST00000587871.1:c.361A>C
ENST00000588076.1:c.376A>C