Canonical Allele Identifier: CA9667816

Gene: DNAAF3 DNAAF3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159436C>T , CM000681.2:g.55159436C>T	GRCh38
NC_000019.9:g.55670804C>T , CM000681.1:g.55670804C>T	GRCh37
NC_000019.8:g.60362616C>T	NCBI36
NG_007866.2:g.3297G>A , LRG_432:g.3297G>A
NG_032759.1:g.12287G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.1252G>A (DNAAF3) MANE Select	NP_001243644.1:p.Val418Met
ENST00000524407.7:c.1252G>A (DNAAF3) MANE Select	ENSP00000432046.3:p.Val418Met
NM_001256714.1:c.1453G>A (DNAAF3)	NP_001243643.1:p.Val485Met
NM_001256715.1:c.1252G>A (DNAAF3)	NP_001243644.1:p.Val418Met
NM_001256716.1:c.1090G>A (DNAAF3)	NP_001243645.1:p.Val364Met
NM_001256716.2:c.1090G>A (DNAAF3)	NP_001243645.1:p.Val364Met
NM_178837.4:c.1393G>A (DNAAF3)	NP_849159.2:p.Val465Met
ENST00000391720.8:c.1393G>A (DNAAF3)	ENSP00000375600.5:p.Val465Met
ENST00000455045.5:c.1090G>A (DNAAF3)	ENSP00000394343.1:p.Val364Met
ENST00000524407.6:c.1252G>A (DNAAF3)	ENSP00000432046.2:p.Val418Met
ENST00000527223.6:c.1453G>A (DNAAF3)	ENSP00000436975.2:p.Val485Met
ENST00000528412.5:c.*1040G>A (DNAAF3)	ENSP00000433826.2:n.*1040G>A
ENST00000533527.6:n.1014G>A (DNAAF3)
ENST00000587789.2:n.337G>A (DNAAF3)
ENST00000587871.1:c.236G>A
ENST00000588076.1:c.251G>A (DNAAF3)
XR_001754014.1:n.78C>T (DNAAF3-AS1)
XR_001754015.1:n.98C>T (DNAAF3-AS1)