Canonical Allele Identifier: CA344672819

Gene: MIA3

Linked Data

• MyVariant Identifiers: chr1:g.222832095G>A (hg19) ; chr1:g.222658753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658753G>A , CM000663.2:g.222658753G>A	GRCh38
NC_000001.10:g.222832095G>A , CM000663.1:g.222832095G>A	GRCh37
NC_000001.9:g.220898718G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4639G>A MANE Select	ENSP00000340900.5:p.Glu1547Lys
ENST00000340535.11:c.1273G>A	ENSP00000345866.7:p.Glu425Lys
ENST00000344507.1:c.1475-6846G>A	ENSP00000341348.1:n.1475-6846G>A
ENST00000344922.9:c.4639G>A	ENSP00000340900.5:p.Glu1547Lys
ENST00000476400.1:n.112G>A
NM_001300867.1:c.1273G>A	NP_001287796.1:p.Glu425Lys
NM_198551.3:c.4639G>A	NP_940953.2:p.Glu1547Lys
XM_005273121.3:c.4639G>A	XP_005273178.1:p.Glu1547Lys
XM_006711304.2:c.4462G>A	XP_006711367.1:p.Glu1488Lys
NM_001324062.1:c.4639G>A	NP_001310991.1:p.Glu1547Lys
NM_001324063.1:c.4462G>A	NP_001310992.1:p.Glu1488Lys
NM_001324064.1:c.4147G>A	NP_001310993.1:p.Glu1383Lys
NM_001324065.1:c.1273G>A	NP_001310994.1:p.Glu425Lys
XM_006711304.4:c.4462G>A	XP_006711367.3:p.Glu1488Lys
XM_017001243.2:c.4147G>A	XP_016856732.1:p.Glu1383Lys
NM_198551.4:c.4639G>A MANE Select	NP_940953.2:p.Glu1547Lys
NM_001300867.2:c.1273G>A	NP_001287796.1:p.Glu425Lys
NM_001324062.2:c.4639G>A	NP_001310991.1:p.Glu1547Lys
NM_001324063.2:c.4462G>A	NP_001310992.1:p.Glu1488Lys
NM_001324064.2:c.4147G>A	NP_001310993.1:p.Glu1383Lys
NM_001324065.2:c.1273G>A	NP_001310994.1:p.Glu425Lys