Canonical Allele Identifier: CA731988198

Gene: MIA3

Linked Data

• dbSNP Id: rs1256813919
• gnomAD v3: 1-222658665-G-A
• gnomAD v4: 1-222658665-G-A
• MyVariant Identifiers: chr1:g.222832007G>A (hg19) ; chr1:g.222658665G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658665G>A , CM000663.2:g.222658665G>A	GRCh38
NC_000001.10:g.222832007G>A , CM000663.1:g.222832007G>A	GRCh37
NC_000001.9:g.220898630G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4608-57G>A MANE Select	ENSP00000340900.5:n.4608-57G>A
ENST00000340535.11:c.1242-57G>A	ENSP00000345866.7:n.1242-57G>A
ENST00000344507.1:c.1475-6934G>A	ENSP00000341348.1:n.1475-6934G>A
ENST00000344922.9:c.4608-57G>A	ENSP00000340900.5:n.4608-57G>A
ENST00000476400.1:n.24G>A
NM_001300867.1:c.1242-57G>A	NP_001287796.1:n.1242-57G>A
NM_198551.3:c.4608-57G>A	NP_940953.2:n.4608-57G>A
XM_005273121.3:c.4608-57G>A	XP_005273178.1:n.4608-57G>A
XM_006711304.2:c.4431-57G>A	XP_006711367.1:n.4431-57G>A
XM_011509513.1:c.*689G>A	XP_011507815.1:n.*689G>A
NM_001324062.1:c.4608-57G>A	NP_001310991.1:n.4608-57G>A
NM_001324063.1:c.4431-57G>A	NP_001310992.1:n.4431-57G>A
NM_001324064.1:c.4116-57G>A	NP_001310993.1:n.4116-57G>A
NM_001324065.1:c.1242-57G>A	NP_001310994.1:n.1242-57G>A
XM_006711304.4:c.4431-57G>A	XP_006711367.3:n.4431-57G>A
XM_011509513.3:c.*689G>A	XP_011507815.3:n.*689G>A
XM_017001243.2:c.4116-57G>A	XP_016856732.1:n.4116-57G>A
NM_198551.4:c.4608-57G>A MANE Select	NP_940953.2:n.4608-57G>A
NM_001300867.2:c.1242-57G>A	NP_001287796.1:n.1242-57G>A
NM_001324062.2:c.4608-57G>A	NP_001310991.1:n.4608-57G>A
NM_001324063.2:c.4431-57G>A	NP_001310992.1:n.4431-57G>A
NM_001324064.2:c.4116-57G>A	NP_001310993.1:n.4116-57G>A
NM_001324065.2:c.1242-57G>A	NP_001310994.1:n.1242-57G>A