Canonical Allele Identifier: CA1223337030

Gene: MIA3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658761G= , CM000663.2:g.222658761G=	GRCh38
NC_000001.10:g.222832103G= , CM000663.1:g.222832103G=	GRCh37
NC_000001.9:g.220898726G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4647G= MANE Select	ENSP00000340900.5:p.Glu1549=
ENST00000340535.11:c.1281G=	ENSP00000345866.7:p.Glu427=
ENST00000344507.1:c.1475-6838G=	ENSP00000341348.1:n.1475-6838G=
ENST00000344922.9:c.4647G=	ENSP00000340900.5:p.Glu1549=
ENST00000476400.1:n.120G=
NM_001300867.1:c.1281G=	NP_001287796.1:p.Glu427=
NM_198551.3:c.4647G=	NP_940953.2:p.Glu1549=
XM_005273121.3:c.4647G=	XP_005273178.1:p.Glu1549=
XM_006711304.2:c.4470G=	XP_006711367.1:p.Glu1490=
NM_001324062.1:c.4647G=	NP_001310991.1:p.Glu1549=
NM_001324063.1:c.4470G=	NP_001310992.1:p.Glu1490=
NM_001324064.1:c.4155G=	NP_001310993.1:p.Glu1385=
NM_001324065.1:c.1281G=	NP_001310994.1:p.Glu427=
XM_006711304.4:c.4470G=	XP_006711367.3:p.Glu1490=
XM_017001243.2:c.4155G=	XP_016856732.1:p.Glu1385=
NM_198551.4:c.4647G= MANE Select	NP_940953.2:p.Glu1549=
NM_001300867.2:c.1281G=	NP_001287796.1:p.Glu427=
NM_001324062.2:c.4647G=	NP_001310991.1:p.Glu1549=
NM_001324063.2:c.4470G=	NP_001310992.1:p.Glu1490=
NM_001324064.2:c.4155G=	NP_001310993.1:p.Glu1385=
NM_001324065.2:c.1281G=	NP_001310994.1:p.Glu427=