Canonical Allele Identifier: CA394604248

Gene: DNAJA3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4450424C>A , CM000678.2:g.4450424C>A	GRCh38
NC_000016.9:g.4500425C>A , CM000678.1:g.4500425C>A	GRCh37
NC_000016.8:g.4440426C>A	NCBI36
NG_029866.1:g.29620C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005147.6:c.1266C>A MANE Select	NP_005138.3:p.Ser422Arg
ENST00000262375.11:c.1266C>A MANE Select	ENSP00000262375.4:p.Ser422Arg
NM_001135110.2:c.1266C>A	NP_001128582.1:p.Ser422Arg
NM_001135110.3:c.1266C>A	NP_001128582.1:p.Ser422Arg
NM_001286516.1:c.807C>A	NP_001273445.1:p.Ser269Arg
NM_001286516.2:c.807C>A	NP_001273445.1:p.Ser269Arg
NM_005147.5:c.1266C>A	NP_005138.3:p.Ser422Arg
ENST00000262375.10:c.1266C>A	ENSP00000262375.4:p.Ser422Arg
ENST00000355296.8:c.1266C>A	ENSP00000347445.4:p.Ser422Arg
ENST00000431375.6:c.807C>A	ENSP00000393970.2:p.Ser269Arg
ENST00000576180.1:n.871C>A
ENST00000576911.5:c.*620C>A	ENSP00000459098.1:n.*620C>A