Canonical Allele Identifier: CA7876055
Community Standard Title: NM_005147.6(DNAJA3):c.1264A>C (p.Ser422Arg)
Gene: DNAJA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4450422A>C , CM000678.2:g.4450422A>C GRCh38
NC_000016.9:g.4500423A>C , CM000678.1:g.4500423A>C GRCh37
NC_000016.8:g.4440424A>C NCBI36
NG_029866.1:g.29618A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005147.6:c.1264A>C MANE Select NP_005138.3:p.Ser422Arg
ENST00000262375.11:c.1264A>C MANE Select ENSP00000262375.4:p.Ser422Arg
NM_001135110.2:c.1264A>C NP_001128582.1:p.Ser422Arg
NM_001135110.3:c.1264A>C NP_001128582.1:p.Ser422Arg
NM_001286516.1:c.805A>C NP_001273445.1:p.Ser269Arg
NM_001286516.2:c.805A>C NP_001273445.1:p.Ser269Arg
NM_005147.5:c.1264A>C NP_005138.3:p.Ser422Arg
ENST00000262375.10:c.1264A>C ENSP00000262375.4:p.Ser422Arg
ENST00000355296.8:c.1264A>C ENSP00000347445.4:p.Ser422Arg
ENST00000431375.6:c.805A>C ENSP00000393970.2:p.Ser269Arg
ENST00000576180.1:n.869A>C
ENST00000576911.5:c.*618A>C ENSP00000459098.1:n.*618A>C