Canonical Allele Identifier: CA310152109

Gene: DNAAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159267G>A , CM000681.2:g.55159267G>A	GRCh38
NC_000019.9:g.55670635G>A , CM000681.1:g.55670635G>A	GRCh37
NC_000019.8:g.60362447G>A	NCBI36
NG_007866.2:g.3466C>T , LRG_432:g.3466C>T
NG_032759.1:g.12456C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.1421C>T MANE Select	NP_001243644.1:p.Pro474Leu
ENST00000524407.7:c.1421C>T MANE Select	ENSP00000432046.3:p.Pro474Leu
NM_001256714.1:c.1622C>T	NP_001243643.1:p.Pro541Leu
NM_001256715.1:c.1421C>T	NP_001243644.1:p.Pro474Leu
NM_001256716.1:c.1259C>T	NP_001243645.1:p.Pro420Leu
NM_001256716.2:c.1259C>T	NP_001243645.1:p.Pro420Leu
NM_178837.4:c.1562C>T	NP_849159.2:p.Pro521Leu
ENST00000391720.8:c.1562C>T	ENSP00000375600.5:p.Pro521Leu
ENST00000455045.5:c.1259C>T	ENSP00000394343.1:p.Pro420Leu
ENST00000524407.6:c.1421C>T	ENSP00000432046.2:p.Pro474Leu
ENST00000527223.6:c.1622C>T	ENSP00000436975.2:p.Pro541Leu
ENST00000528412.5:c.*1209C>T	ENSP00000433826.2:n.*1209C>T
ENST00000533527.6:n.1183C>T
ENST00000587789.2:n.506C>T
ENST00000587871.1:c.405C>T
ENST00000588076.1:c.420C>T