Canonical Allele Identifier: CA9667819

Gene: DNAAF3 DNAAF3-AS1

Linked Data

• dbSNP Id: rs372062264
• ExAC: 19:55670813 G / C
• gnomAD v2: 19-55670813-G-C
• gnomAD v4: 19-55159445-G-C
• MyVariant Identifiers: chr19:g.55670813G>C (hg19) ; chr19:g.55159445G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55159445G>C , CM000681.2:g.55159445G>C	GRCh38
NC_000019.9:g.55670813G>C , CM000681.1:g.55670813G>C	GRCh37
NC_000019.8:g.60362625G>C	NCBI36
NG_007866.2:g.3288C>G , LRG_432:g.3288C>G
NG_032759.1:g.12278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524407.7:c.1243C>G (DNAAF3) MANE Select	ENSP00000432046.3:p.Leu415Val
ENST00000391720.8:c.1384C>G (DNAAF3)	ENSP00000375600.5:p.Leu462Val
ENST00000455045.5:c.1081C>G (DNAAF3)	ENSP00000394343.1:p.Leu361Val
ENST00000524407.6:c.1243C>G (DNAAF3)	ENSP00000432046.2:p.Leu415Val
ENST00000527223.6:c.1444C>G (DNAAF3)	ENSP00000436975.2:p.Leu482Val
ENST00000528412.5:c.*1031C>G (DNAAF3)	ENSP00000433826.2:n.*1031C>G
ENST00000533527.6:n.1005C>G (DNAAF3)
ENST00000587789.2:n.328C>G (DNAAF3)
ENST00000587871.1:c.227C>G
ENST00000588076.1:c.242C>G (DNAAF3)
NM_001256714.1:c.1444C>G (DNAAF3)	NP_001243643.1:p.Leu482Val
NM_001256715.1:c.1243C>G (DNAAF3)	NP_001243644.1:p.Leu415Val
NM_001256716.1:c.1081C>G (DNAAF3)	NP_001243645.1:p.Leu361Val
NM_178837.4:c.1384C>G (DNAAF3)	NP_849159.2:p.Leu462Val
XR_001754014.1:n.87G>C (DNAAF3-AS1)
XR_001754015.1:n.107G>C (DNAAF3-AS1)
NM_001256715.2:c.1243C>G (DNAAF3) MANE Select	NP_001243644.1:p.Leu415Val
NM_001256716.2:c.1081C>G (DNAAF3)	NP_001243645.1:p.Leu361Val