Canonical Allele Identifier: CA1143517443
Gene: MIA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658747C= , CM000663.2:g.222658747C= GRCh38
NC_000001.10:g.222832089C= , CM000663.1:g.222832089C= GRCh37
NC_000001.9:g.220898712C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344922.10:c.4633C= MANE Select ENSP00000340900.5:p.Arg1545=
ENST00000340535.11:c.1267C= ENSP00000345866.7:p.Arg423=
ENST00000344507.1:c.1475-6852C= ENSP00000341348.1:n.1475-6852C=
ENST00000344922.9:c.4633C= ENSP00000340900.5:p.Arg1545=
ENST00000476400.1:n.106C=
NM_001300867.1:c.1267C= NP_001287796.1:p.Arg423=
NM_198551.3:c.4633C= NP_940953.2:p.Arg1545=
XM_005273121.3:c.4633C= XP_005273178.1:p.Arg1545=
XM_006711304.2:c.4456C= XP_006711367.1:p.Arg1486=
NM_001324062.1:c.4633C= NP_001310991.1:p.Arg1545=
NM_001324063.1:c.4456C= NP_001310992.1:p.Arg1486=
NM_001324064.1:c.4141C= NP_001310993.1:p.Arg1381=
NM_001324065.1:c.1267C= NP_001310994.1:p.Arg423=
XM_006711304.4:c.4456C= XP_006711367.3:p.Arg1486=
XM_017001243.2:c.4141C= XP_016856732.1:p.Arg1381=
NM_198551.4:c.4633C= MANE Select NP_940953.2:p.Arg1545=
NM_001300867.2:c.1267C= NP_001287796.1:p.Arg423=
NM_001324062.2:c.4633C= NP_001310991.1:p.Arg1545=
NM_001324063.2:c.4456C= NP_001310992.1:p.Arg1486=
NM_001324064.2:c.4141C= NP_001310993.1:p.Arg1381=
NM_001324065.2:c.1267C= NP_001310994.1:p.Arg423=