Canonical Allele Identifier: CA2650610473

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658666-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658666A>G , CM000663.2:g.222658666A>G	GRCh38
NC_000001.10:g.222832008A>G , CM000663.1:g.222832008A>G	GRCh37
NC_000001.9:g.220898631A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4608-56A>G MANE Select	ENSP00000340900.5:n.4608-56A>G
ENST00000340535.11:c.1242-56A>G	ENSP00000345866.7:n.1242-56A>G
ENST00000344507.1:c.1475-6933A>G	ENSP00000341348.1:n.1475-6933A>G
ENST00000344922.9:c.4608-56A>G	ENSP00000340900.5:n.4608-56A>G
ENST00000476400.1:n.25A>G
NM_001300867.1:c.1242-56A>G	NP_001287796.1:n.1242-56A>G
NM_198551.3:c.4608-56A>G	NP_940953.2:n.4608-56A>G
XM_005273121.3:c.4608-56A>G	XP_005273178.1:n.4608-56A>G
XM_006711304.2:c.4431-56A>G	XP_006711367.1:n.4431-56A>G
XM_011509513.1:c.*690A>G	XP_011507815.1:n.*690A>G
NM_001324062.1:c.4608-56A>G	NP_001310991.1:n.4608-56A>G
NM_001324063.1:c.4431-56A>G	NP_001310992.1:n.4431-56A>G
NM_001324064.1:c.4116-56A>G	NP_001310993.1:n.4116-56A>G
NM_001324065.1:c.1242-56A>G	NP_001310994.1:n.1242-56A>G
XM_006711304.4:c.4431-56A>G	XP_006711367.3:n.4431-56A>G
XM_011509513.3:c.*690A>G	XP_011507815.3:n.*690A>G
XM_017001243.2:c.4116-56A>G	XP_016856732.1:n.4116-56A>G
NM_198551.4:c.4608-56A>G MANE Select	NP_940953.2:n.4608-56A>G
NM_001300867.2:c.1242-56A>G	NP_001287796.1:n.1242-56A>G
NM_001324062.2:c.4608-56A>G	NP_001310991.1:n.4608-56A>G
NM_001324063.2:c.4431-56A>G	NP_001310992.1:n.4431-56A>G
NM_001324064.2:c.4116-56A>G	NP_001310993.1:n.4116-56A>G
NM_001324065.2:c.1242-56A>G	NP_001310994.1:n.1242-56A>G