Canonical Allele Identifier: CA344672826

Gene: MIA3

Linked Data

• dbSNP Id: rs1286858138
• gnomAD v3: 1-222658755-A-T
• gnomAD v4: 1-222658755-A-T
• MyVariant Identifiers: chr1:g.222832097A>T (hg19) ; chr1:g.222658755A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658755A>T , CM000663.2:g.222658755A>T	GRCh38
NC_000001.10:g.222832097A>T , CM000663.1:g.222832097A>T	GRCh37
NC_000001.9:g.220898720A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4641A>T MANE Select	ENSP00000340900.5:p.Glu1547Asp
ENST00000340535.11:c.1275A>T	ENSP00000345866.7:p.Glu425Asp
ENST00000344507.1:c.1475-6844A>T	ENSP00000341348.1:n.1475-6844A>T
ENST00000344922.9:c.4641A>T	ENSP00000340900.5:p.Glu1547Asp
ENST00000476400.1:n.114A>T
NM_001300867.1:c.1275A>T	NP_001287796.1:p.Glu425Asp
NM_198551.3:c.4641A>T	NP_940953.2:p.Glu1547Asp
XM_005273121.3:c.4641A>T	XP_005273178.1:p.Glu1547Asp
XM_006711304.2:c.4464A>T	XP_006711367.1:p.Glu1488Asp
NM_001324062.1:c.4641A>T	NP_001310991.1:p.Glu1547Asp
NM_001324063.1:c.4464A>T	NP_001310992.1:p.Glu1488Asp
NM_001324064.1:c.4149A>T	NP_001310993.1:p.Glu1383Asp
NM_001324065.1:c.1275A>T	NP_001310994.1:p.Glu425Asp
XM_006711304.4:c.4464A>T	XP_006711367.3:p.Glu1488Asp
XM_017001243.2:c.4149A>T	XP_016856732.1:p.Glu1383Asp
NM_198551.4:c.4641A>T MANE Select	NP_940953.2:p.Glu1547Asp
NM_001300867.2:c.1275A>T	NP_001287796.1:p.Glu425Asp
NM_001324062.2:c.4641A>T	NP_001310991.1:p.Glu1547Asp
NM_001324063.2:c.4464A>T	NP_001310992.1:p.Glu1488Asp
NM_001324064.2:c.4149A>T	NP_001310993.1:p.Glu1383Asp
NM_001324065.2:c.1275A>T	NP_001310994.1:p.Glu425Asp