Canonical Allele Identifier: CA2650609602

Gene: MIA3

Linked Data

• gnomAD v4: 1-222650209-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.222650209A>C , CM000663.2:g.222650209A>C	GRCh38
NC_000001.10:g.222823551A>C , CM000663.1:g.222823551A>C	GRCh37
NC_000001.9:g.220890174A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000344922.10:c.3632-83A>C MANE Select	ENSP00000340900.5:n.3632-83A>C
ENST00000340535.11:c.266-83A>C	ENSP00000345866.7:n.266-83A>C
ENST00000344507.1:c.1475-15390A>C	ENSP00000341348.1:n.1475-15390A>C
ENST00000344922.9:c.3632-83A>C	ENSP00000340900.5:n.3632-83A>C
ENST00000354906.7:c.2379-83A>C
ENST00000467190.1:n.530-83A>C
ENST00000495210.1:n.326-83A>C
NM_001300867.1:c.266-83A>C	NP_001287796.1:n.266-83A>C
NM_198551.3:c.3632-83A>C	NP_940953.2:n.3632-83A>C
XM_005273121.3:c.3632-83A>C	XP_005273178.1:n.3632-83A>C
XM_006711304.2:c.3632-83A>C	XP_006711367.1:n.3632-83A>C
XM_011509513.1:c.3632-83A>C	XP_011507815.1:n.3632-83A>C
NM_001324062.1:c.3632-83A>C	NP_001310991.1:n.3632-83A>C
NM_001324063.1:c.3632-83A>C	NP_001310992.1:n.3632-83A>C
NM_001324064.1:c.3140-83A>C	NP_001310993.1:n.3140-83A>C
NM_001324065.1:c.266-83A>C	NP_001310994.1:n.266-83A>C
XM_006711304.4:c.3632-83A>C	XP_006711367.3:n.3632-83A>C
XM_011509513.3:c.3632-83A>C	XP_011507815.3:n.3632-83A>C
XM_017001243.2:c.3140-83A>C	XP_016856732.1:n.3140-83A>C
NM_198551.4:c.3632-83A>C MANE Select	NP_940953.2:n.3632-83A>C
NM_001300867.2:c.266-83A>C	NP_001287796.1:n.266-83A>C
NM_001324062.2:c.3632-83A>C	NP_001310991.1:n.3632-83A>C
NM_001324063.2:c.3632-83A>C	NP_001310992.1:n.3632-83A>C
NM_001324064.2:c.3140-83A>C	NP_001310993.1:n.3140-83A>C
NM_001324065.2:c.266-83A>C	NP_001310994.1:n.266-83A>C