Canonical Allele Identifier: CA1407482
Gene: MIA3 HGNC NCBI

Linked Data

dbSNP Id: rs769011746

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.222658822A>G , CM000663.2:g.222658822A>G GRCh38
NC_000001.10:g.222832164A>G , CM000663.1:g.222832164A>G GRCh37
NC_000001.9:g.220898787A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000344922.10:c.4708A>G MANE Select ENSP00000340900.5:p.Lys1570Glu
ENST00000340535.11:c.1342A>G ENSP00000345866.7:p.Lys448Glu
ENST00000344507.1:c.1475-6777A>G ENSP00000341348.1:n.1475-6777A>G
ENST00000344922.9:c.4708A>G ENSP00000340900.5:p.Lys1570Glu
ENST00000476400.1:n.181A>G
NM_001300867.1:c.1342A>G NP_001287796.1:p.Lys448Glu
NM_198551.3:c.4708A>G NP_940953.2:p.Lys1570Glu
XM_005273121.3:c.4708A>G XP_005273178.1:p.Lys1570Glu
XM_006711304.2:c.4531A>G XP_006711367.1:p.Lys1511Glu
NM_001324062.1:c.4708A>G NP_001310991.1:p.Lys1570Glu
NM_001324063.1:c.4531A>G NP_001310992.1:p.Lys1511Glu
NM_001324064.1:c.4216A>G NP_001310993.1:p.Lys1406Glu
NM_001324065.1:c.1342A>G NP_001310994.1:p.Lys448Glu
XM_006711304.4:c.4531A>G XP_006711367.3:p.Lys1511Glu
XM_017001243.2:c.4216A>G XP_016856732.1:p.Lys1406Glu
NM_198551.4:c.4708A>G MANE Select NP_940953.2:p.Lys1570Glu
NM_001300867.2:c.1342A>G NP_001287796.1:p.Lys448Glu
NM_001324062.2:c.4708A>G NP_001310991.1:p.Lys1570Glu
NM_001324063.2:c.4531A>G NP_001310992.1:p.Lys1511Glu
NM_001324064.2:c.4216A>G NP_001310993.1:p.Lys1406Glu
NM_001324065.2:c.1342A>G NP_001310994.1:p.Lys448Glu