Canonical Allele Identifier: CA423455933

Gene: MIA3

Linked Data

• gnomAD v4: 1-222658961-T-C
• MyVariant Identifiers: chr1:g.222832303T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658961T>C , CM000663.2:g.222658961T>C	GRCh38
NC_000001.10:g.222832303T>C , CM000663.1:g.222832303T>C	GRCh37
NC_000001.9:g.220898926T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344922.10:c.4709+138T>C MANE Select	ENSP00000340900.5:n.4709+138T>C
ENST00000340535.11:c.1343+138T>C	ENSP00000345866.7:n.1343+138T>C
ENST00000344507.1:c.1475-6638T>C	ENSP00000341348.1:n.1475-6638T>C
ENST00000344922.9:c.4709+138T>C	ENSP00000340900.5:n.4709+138T>C
ENST00000476400.1:n.182+138T>C
NM_001300867.1:c.1343+138T>C	NP_001287796.1:n.1343+138T>C
NM_198551.3:c.4709+138T>C	NP_940953.2:n.4709+138T>C
XM_005273121.3:c.4709+138T>C	XP_005273178.1:n.4709+138T>C
XM_006711304.2:c.4532+138T>C	XP_006711367.1:n.4532+138T>C
NM_001324062.1:c.4709+138T>C	NP_001310991.1:n.4709+138T>C
NM_001324063.1:c.4532+138T>C	NP_001310992.1:n.4532+138T>C
NM_001324064.1:c.4217+138T>C	NP_001310993.1:n.4217+138T>C
NM_001324065.1:c.1343+138T>C	NP_001310994.1:n.1343+138T>C
XM_006711304.4:c.4532+138T>C	XP_006711367.3:n.4532+138T>C
XM_017001243.2:c.4217+138T>C	XP_016856732.1:n.4217+138T>C
NM_198551.4:c.4709+138T>C MANE Select	NP_940953.2:n.4709+138T>C
NM_001300867.2:c.1343+138T>C	NP_001287796.1:n.1343+138T>C
NM_001324062.2:c.4709+138T>C	NP_001310991.1:n.4709+138T>C
NM_001324063.2:c.4532+138T>C	NP_001310992.1:n.4532+138T>C
NM_001324064.2:c.4217+138T>C	NP_001310993.1:n.4217+138T>C
NM_001324065.2:c.1343+138T>C	NP_001310994.1:n.1343+138T>C