Canonical Allele Identifier: CA310153960

Gene: DNAAF3 DNAAF3-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55161753G>A , CM000681.2:g.55161753G>A	GRCh38
NC_000019.9:g.55673121G>A , CM000681.1:g.55673121G>A	GRCh37
NC_000019.8:g.60364933G>A	NCBI36
NG_007866.2:g.980C>T , LRG_432:g.980C>T
NG_032759.1:g.9970C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.553C>T (DNAAF3) MANE Select	NP_001243644.1:p.Pro185Ser
ENST00000524407.7:c.553C>T (DNAAF3) MANE Select	ENSP00000432046.3:p.Pro185Ser
NM_001256714.1:c.757C>T (DNAAF3)	NP_001243643.1:p.Pro253Ser
NM_001256715.1:c.553C>T (DNAAF3)	NP_001243644.1:p.Pro185Ser
NM_001256716.1:c.391C>T (DNAAF3)	NP_001243645.1:p.Pro131Ser
NM_001256716.2:c.391C>T (DNAAF3)	NP_001243645.1:p.Pro131Ser
NM_178837.4:c.694C>T (DNAAF3)	NP_849159.2:p.Pro232Ser
ENST00000391720.8:c.694C>T (DNAAF3)	ENSP00000375600.5:p.Pro232Ser
ENST00000455045.5:c.391C>T (DNAAF3)	ENSP00000394343.1:p.Pro131Ser
ENST00000524407.6:c.553C>T (DNAAF3)	ENSP00000432046.2:p.Pro185Ser
ENST00000526959.5:n.290C>T (DNAAF3)
ENST00000527166.1:n.402C>T (DNAAF3)
ENST00000527223.6:c.757C>T (DNAAF3)	ENSP00000436975.2:p.Pro253Ser
ENST00000527292.5:n.318+380C>T (DNAAF3)
ENST00000528412.5:c.*341C>T (DNAAF3)	ENSP00000433826.2:n.*341C>T
ENST00000533527.6:n.315C>T (DNAAF3)
XR_001754014.1:n.256+539G>A (DNAAF3-AS1)
XR_001754015.1:n.227+539G>A (DNAAF3-AS1)
XR_430261.2:n.150+539G>A (DNAAF3-AS1)
XR_936074.1:n.265+539G>A (DNAAF3-AS1)
XR_936074.2:n.269+539G>A (DNAAF3-AS1)