Canonical Allele Identifier: CA407448058

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• MyVariant Identifiers: chr19:g.55670810C>G (hg19) ; chr19:g.55159442C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159442C>G , CM000681.2:g.55159442C>G	GRCh38
NC_000019.9:g.55670810C>G , CM000681.1:g.55670810C>G	GRCh37
NC_000019.8:g.60362622C>G	NCBI36
NG_007866.2:g.3291G>C , LRG_432:g.3291G>C
NG_032759.1:g.12281G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524407.7:c.1246G>C (DNAAF3) MANE Select	ENSP00000432046.3:p.Val416Leu
ENST00000391720.8:c.1387G>C (DNAAF3)	ENSP00000375600.5:p.Val463Leu
ENST00000455045.5:c.1084G>C (DNAAF3)	ENSP00000394343.1:p.Val362Leu
ENST00000524407.6:c.1246G>C (DNAAF3)	ENSP00000432046.2:p.Val416Leu
ENST00000527223.6:c.1447G>C (DNAAF3)	ENSP00000436975.2:p.Val483Leu
ENST00000528412.5:c.*1034G>C (DNAAF3)	ENSP00000433826.2:n.*1034G>C
ENST00000533527.6:n.1008G>C (DNAAF3)
ENST00000587789.2:n.331G>C (DNAAF3)
ENST00000587871.1:c.230G>C
ENST00000588076.1:c.245G>C (DNAAF3)
NM_001256714.1:c.1447G>C (DNAAF3)	NP_001243643.1:p.Val483Leu
NM_001256715.1:c.1246G>C (DNAAF3)	NP_001243644.1:p.Val416Leu
NM_001256716.1:c.1084G>C (DNAAF3)	NP_001243645.1:p.Val362Leu
NM_178837.4:c.1387G>C (DNAAF3)	NP_849159.2:p.Val463Leu
XR_001754014.1:n.84C>G (DNAAF3-AS1)
XR_001754015.1:n.104C>G (DNAAF3-AS1)
NM_001256715.2:c.1246G>C (DNAAF3) MANE Select	NP_001243644.1:p.Val416Leu
NM_001256716.2:c.1084G>C (DNAAF3)	NP_001243645.1:p.Val362Leu