Canonical Allele Identifier: CA344672925
Gene: MIA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658802C>G , CM000663.2:g.222658802C>G GRCh38
NC_000001.10:g.222832144C>G , CM000663.1:g.222832144C>G GRCh37
NC_000001.9:g.220898767C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344922.10:c.4688C>G MANE Select ENSP00000340900.5:p.Ala1563Gly
ENST00000340535.11:c.1322C>G ENSP00000345866.7:p.Ala441Gly
ENST00000344507.1:c.1475-6797C>G ENSP00000341348.1:n.1475-6797C>G
ENST00000344922.9:c.4688C>G ENSP00000340900.5:p.Ala1563Gly
ENST00000476400.1:n.161C>G
NM_001300867.1:c.1322C>G NP_001287796.1:p.Ala441Gly
NM_198551.3:c.4688C>G NP_940953.2:p.Ala1563Gly
XM_005273121.3:c.4688C>G XP_005273178.1:p.Ala1563Gly
XM_006711304.2:c.4511C>G XP_006711367.1:p.Ala1504Gly
NM_001324062.1:c.4688C>G NP_001310991.1:p.Ala1563Gly
NM_001324063.1:c.4511C>G NP_001310992.1:p.Ala1504Gly
NM_001324064.1:c.4196C>G NP_001310993.1:p.Ala1399Gly
NM_001324065.1:c.1322C>G NP_001310994.1:p.Ala441Gly
XM_006711304.4:c.4511C>G XP_006711367.3:p.Ala1504Gly
XM_017001243.2:c.4196C>G XP_016856732.1:p.Ala1399Gly
NM_198551.4:c.4688C>G MANE Select NP_940953.2:p.Ala1563Gly
NM_001300867.2:c.1322C>G NP_001287796.1:p.Ala441Gly
NM_001324062.2:c.4688C>G NP_001310991.1:p.Ala1563Gly
NM_001324063.2:c.4511C>G NP_001310992.1:p.Ala1504Gly
NM_001324064.2:c.4196C>G NP_001310993.1:p.Ala1399Gly
NM_001324065.2:c.1322C>G NP_001310994.1:p.Ala441Gly