Canonical Allele Identifier: CA16616445

Gene: DNAAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159152C>T , CM000681.2:g.55159152C>T	GRCh38
NC_000019.9:g.55670520C>T , CM000681.1:g.55670520C>T	GRCh37
NC_000019.8:g.60362332C>T	NCBI36
NG_007866.2:g.3581G>A , LRG_432:g.3581G>A
NG_032759.1:g.12571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524407.7:c.1536G>A MANE Select	ENSP00000432046.3:p.Glu512=
ENST00000391720.8:c.1677G>A	ENSP00000375600.5:p.Glu559=
ENST00000455045.5:c.1374G>A	ENSP00000394343.1:p.Glu458=
ENST00000524407.6:c.1536G>A	ENSP00000432046.2:p.Glu512=
ENST00000527223.6:c.1737G>A	ENSP00000436975.2:p.Glu579=
ENST00000528412.5:c.*1324G>A	ENSP00000433826.2:n.*1324G>A
ENST00000533527.6:n.1298G>A
ENST00000587789.2:n.621G>A
ENST00000587871.1:c.479+41G>A
ENST00000588076.1:c.535G>A
NM_001256714.1:c.1737G>A	NP_001243643.1:p.Glu579=
NM_001256715.1:c.1536G>A	NP_001243644.1:p.Glu512=
NM_001256716.1:c.1374G>A	NP_001243645.1:p.Glu458=
NM_178837.4:c.1677G>A	NP_849159.2:p.Glu559=
NM_001256715.2:c.1536G>A MANE Select	NP_001243644.1:p.Glu512=
NM_001256716.2:c.1374G>A	NP_001243645.1:p.Glu458=