Canonical Allele Identifier: CA2961046881

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45553437A>C , CM000681.2:g.45553437A>C	GRCh38
NC_000019.9:g.46056695A>C , CM000681.1:g.46056695A>C	GRCh37
NC_000019.8:g.50748535A>C	NCBI36
NG_013332.1:g.36428T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.*77T>G MANE Select	NP_079412.1:n.*77T>G
ENST00000263275.5:c.*77T>G MANE Select	ENSP00000263275.4:n.*77T>G
NM_001017989.2:c.143-23981T>G	NP_001017989.2:n.143-23981T>G
NM_001017989.3:c.143-23981T>G	NP_001017989.2:n.143-23981T>G
NM_025136.3:c.*77T>G	NP_079412.1:n.*77T>G
ENST00000263275.4:c.*77T>G	ENSP00000263275.3:n.*77T>G
ENST00000323060.3:c.143-23981T>G	ENSP00000319817.3:n.143-23981T>G
ENST00000323060.4:c.143-23981T>G	ENSP00000319817.3:n.143-23981T>G
ENST00000544371.1:c.*77T>G	ENSP00000442839.1:n.*77T>G
XM_005259278.2:c.*77T>G	XP_005259335.1:n.*77T>G
XM_006723403.2:c.*77T>G	XP_006723466.1:n.*77T>G
XM_006723403.4:c.*77T>G	XP_006723466.1:n.*77T>G
XM_011527348.1:c.-17-23981T>G	XP_011525650.1:n.-17-23981T>G