Canonical Allele Identifier: CA344672946

Gene: MIA3

Linked Data

• dbSNP Id: rs1394799084
• gnomAD v2: 1-222832153-T-C
• gnomAD v4: 1-222658811-T-C
• MyVariant Identifiers: chr1:g.222832153T>C (hg19) ; chr1:g.222658811T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222658811T>C , CM000663.2:g.222658811T>C	GRCh38
NC_000001.10:g.222832153T>C , CM000663.1:g.222832153T>C	GRCh37
NC_000001.9:g.220898776T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344922.10:c.4697T>C MANE Select	ENSP00000340900.5:p.Val1566Ala
ENST00000340535.11:c.1331T>C	ENSP00000345866.7:p.Val444Ala
ENST00000344507.1:c.1475-6788T>C	ENSP00000341348.1:n.1475-6788T>C
ENST00000344922.9:c.4697T>C	ENSP00000340900.5:p.Val1566Ala
ENST00000476400.1:n.170T>C
NM_001300867.1:c.1331T>C	NP_001287796.1:p.Val444Ala
NM_198551.3:c.4697T>C	NP_940953.2:p.Val1566Ala
XM_005273121.3:c.4697T>C	XP_005273178.1:p.Val1566Ala
XM_006711304.2:c.4520T>C	XP_006711367.1:p.Val1507Ala
NM_001324062.1:c.4697T>C	NP_001310991.1:p.Val1566Ala
NM_001324063.1:c.4520T>C	NP_001310992.1:p.Val1507Ala
NM_001324064.1:c.4205T>C	NP_001310993.1:p.Val1402Ala
NM_001324065.1:c.1331T>C	NP_001310994.1:p.Val444Ala
XM_006711304.4:c.4520T>C	XP_006711367.3:p.Val1507Ala
XM_017001243.2:c.4205T>C	XP_016856732.1:p.Val1402Ala
NM_198551.4:c.4697T>C MANE Select	NP_940953.2:p.Val1566Ala
NM_001300867.2:c.1331T>C	NP_001287796.1:p.Val444Ala
NM_001324062.2:c.4697T>C	NP_001310991.1:p.Val1566Ala
NM_001324063.2:c.4520T>C	NP_001310992.1:p.Val1507Ala
NM_001324064.2:c.4205T>C	NP_001310993.1:p.Val1402Ala
NM_001324065.2:c.1331T>C	NP_001310994.1:p.Val444Ala