Canonical Allele Identifier: CA344672783
Gene: MIA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658736A>T , CM000663.2:g.222658736A>T GRCh38
NC_000001.10:g.222832078A>T , CM000663.1:g.222832078A>T GRCh37
NC_000001.9:g.220898701A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344922.10:c.4622A>T MANE Select ENSP00000340900.5:p.Glu1541Val
ENST00000340535.11:c.1256A>T ENSP00000345866.7:p.Glu419Val
ENST00000344507.1:c.1475-6863A>T ENSP00000341348.1:n.1475-6863A>T
ENST00000344922.9:c.4622A>T ENSP00000340900.5:p.Glu1541Val
ENST00000476400.1:n.95A>T
NM_001300867.1:c.1256A>T NP_001287796.1:p.Glu419Val
NM_198551.3:c.4622A>T NP_940953.2:p.Glu1541Val
XM_005273121.3:c.4622A>T XP_005273178.1:p.Glu1541Val
XM_006711304.2:c.4445A>T XP_006711367.1:p.Glu1482Val
NM_001324062.1:c.4622A>T NP_001310991.1:p.Glu1541Val
NM_001324063.1:c.4445A>T NP_001310992.1:p.Glu1482Val
NM_001324064.1:c.4130A>T NP_001310993.1:p.Glu1377Val
NM_001324065.1:c.1256A>T NP_001310994.1:p.Glu419Val
XM_006711304.4:c.4445A>T XP_006711367.3:p.Glu1482Val
XM_017001243.2:c.4130A>T XP_016856732.1:p.Glu1377Val
NM_198551.4:c.4622A>T MANE Select NP_940953.2:p.Glu1541Val
NM_001300867.2:c.1256A>T NP_001287796.1:p.Glu419Val
NM_001324062.2:c.4622A>T NP_001310991.1:p.Glu1541Val
NM_001324063.2:c.4445A>T NP_001310992.1:p.Glu1482Val
NM_001324064.2:c.4130A>T NP_001310993.1:p.Glu1377Val
NM_001324065.2:c.1256A>T NP_001310994.1:p.Glu419Val