Canonical Allele Identifier: CA9668137

Gene: DNAAF3 DNAAF3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55161822G>T , CM000681.2:g.55161822G>T	GRCh38
NC_000019.9:g.55673190G>T , CM000681.1:g.55673190G>T	GRCh37
NC_000019.8:g.60365002G>T	NCBI36
NG_007866.2:g.911C>A , LRG_432:g.911C>A
NG_032759.1:g.9901C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.484C>A (DNAAF3) MANE Select	NP_001243644.1:p.Arg162Ser
ENST00000524407.7:c.484C>A (DNAAF3) MANE Select	ENSP00000432046.3:p.Arg162Ser
NM_001256714.1:c.688C>A (DNAAF3)	NP_001243643.1:p.Arg230Ser
NM_001256715.1:c.484C>A (DNAAF3)	NP_001243644.1:p.Arg162Ser
NM_001256716.1:c.322C>A (DNAAF3)	NP_001243645.1:p.Arg108Ser
NM_001256716.2:c.322C>A (DNAAF3)	NP_001243645.1:p.Arg108Ser
NM_178837.4:c.625C>A (DNAAF3)	NP_849159.2:p.Arg209Ser
ENST00000391720.8:c.625C>A (DNAAF3)	ENSP00000375600.5:p.Arg209Ser
ENST00000455045.5:c.322C>A (DNAAF3)	ENSP00000394343.1:p.Arg108Ser
ENST00000524407.6:c.484C>A (DNAAF3)	ENSP00000432046.2:p.Arg162Ser
ENST00000526959.5:n.221C>A (DNAAF3)
ENST00000527166.1:n.333C>A (DNAAF3)
ENST00000527223.6:c.688C>A (DNAAF3)	ENSP00000436975.2:p.Arg230Ser
ENST00000527292.5:n.318+311C>A (DNAAF3)
ENST00000528412.5:c.*272C>A (DNAAF3)	ENSP00000433826.2:n.*272C>A
ENST00000533527.6:n.246C>A (DNAAF3)
XR_001754014.1:n.256+608G>T (DNAAF3-AS1)
XR_001754015.1:n.227+608G>T (DNAAF3-AS1)
XR_430261.2:n.150+608G>T (DNAAF3-AS1)
XR_936074.1:n.265+608G>T (DNAAF3-AS1)
XR_936074.2:n.269+608G>T (DNAAF3-AS1)