Canonical Allele Identifier: CA310152183

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• dbSNP Id: rs918071971
• gnomAD v4: 19-55159351-C-T
• MyVariant Identifiers: chr19:g.55670719C>T (hg19) ; chr19:g.55159351C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159351C>T , CM000681.2:g.55159351C>T	GRCh38
NC_000019.9:g.55670719C>T , CM000681.1:g.55670719C>T	GRCh37
NC_000019.8:g.60362531C>T	NCBI36
NG_007866.2:g.3382G>A , LRG_432:g.3382G>A
NG_032759.1:g.12372G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524407.7:c.1337G>A (DNAAF3) MANE Select	ENSP00000432046.3:p.Arg446Lys
ENST00000391720.8:c.1478G>A (DNAAF3)	ENSP00000375600.5:p.Arg493Lys
ENST00000455045.5:c.1175G>A (DNAAF3)	ENSP00000394343.1:p.Arg392Lys
ENST00000524407.6:c.1337G>A (DNAAF3)	ENSP00000432046.2:p.Arg446Lys
ENST00000527223.6:c.1538G>A (DNAAF3)	ENSP00000436975.2:p.Arg513Lys
ENST00000528412.5:c.*1125G>A (DNAAF3)	ENSP00000433826.2:n.*1125G>A
ENST00000533527.6:n.1099G>A (DNAAF3)
ENST00000587789.2:n.422G>A (DNAAF3)
ENST00000587871.1:c.321G>A
ENST00000588076.1:c.336G>A (DNAAF3)
NM_001256714.1:c.1538G>A (DNAAF3)	NP_001243643.1:p.Arg513Lys
NM_001256715.1:c.1337G>A (DNAAF3)	NP_001243644.1:p.Arg446Lys
NM_001256716.1:c.1175G>A (DNAAF3)	NP_001243645.1:p.Arg392Lys
NM_178837.4:c.1478G>A (DNAAF3)	NP_849159.2:p.Arg493Lys
XR_001754015.1:n.13C>T (DNAAF3-AS1)
NM_001256715.2:c.1337G>A (DNAAF3) MANE Select	NP_001243644.1:p.Arg446Lys
NM_001256716.2:c.1175G>A (DNAAF3)	NP_001243645.1:p.Arg392Lys