Canonical Allele Identifier: CA344672835

Gene: MIA3

Linked Data

• dbSNP Id: rs80021570
• gnomAD v2: 1-222832102-A-G
• gnomAD v4: 1-222658760-A-G
• MyVariant Identifiers: chr1:g.222832102A>G (hg19) ; chr1:g.222658760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658760A>G , CM000663.2:g.222658760A>G	GRCh38
NC_000001.10:g.222832102A>G , CM000663.1:g.222832102A>G	GRCh37
NC_000001.9:g.220898725A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4646A>G MANE Select	ENSP00000340900.5:p.Glu1549Gly
ENST00000340535.11:c.1280A>G	ENSP00000345866.7:p.Glu427Gly
ENST00000344507.1:c.1475-6839A>G	ENSP00000341348.1:n.1475-6839A>G
ENST00000344922.9:c.4646A>G	ENSP00000340900.5:p.Glu1549Gly
ENST00000476400.1:n.119A>G
NM_001300867.1:c.1280A>G	NP_001287796.1:p.Glu427Gly
NM_198551.3:c.4646A>G	NP_940953.2:p.Glu1549Gly
XM_005273121.3:c.4646A>G	XP_005273178.1:p.Glu1549Gly
XM_006711304.2:c.4469A>G	XP_006711367.1:p.Glu1490Gly
NM_001324062.1:c.4646A>G	NP_001310991.1:p.Glu1549Gly
NM_001324063.1:c.4469A>G	NP_001310992.1:p.Glu1490Gly
NM_001324064.1:c.4154A>G	NP_001310993.1:p.Glu1385Gly
NM_001324065.1:c.1280A>G	NP_001310994.1:p.Glu427Gly
XM_006711304.4:c.4469A>G	XP_006711367.3:p.Glu1490Gly
XM_017001243.2:c.4154A>G	XP_016856732.1:p.Glu1385Gly
NM_198551.4:c.4646A>G MANE Select	NP_940953.2:p.Glu1549Gly
NM_001300867.2:c.1280A>G	NP_001287796.1:p.Glu427Gly
NM_001324062.2:c.4646A>G	NP_001310991.1:p.Glu1549Gly
NM_001324063.2:c.4469A>G	NP_001310992.1:p.Glu1490Gly
NM_001324064.2:c.4154A>G	NP_001310993.1:p.Glu1385Gly
NM_001324065.2:c.1280A>G	NP_001310994.1:p.Glu427Gly