Canonical Allele Identifier: CA10648864

Gene: OPA3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45548720G>A , CM000681.2:g.45548720G>A	GRCh38
NC_000019.9:g.46051978G>A , CM000681.1:g.46051978G>A	GRCh37
NC_000019.8:g.50743818G>A	NCBI36
NG_013332.1:g.41145C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025136.4:c.*4794C>T MANE Select	NP_079412.1:n.*4794C>T
ENST00000263275.5:c.*4794C>T MANE Select	ENSP00000263275.4:n.*4794C>T
NM_001017989.2:c.143-19264C>T	NP_001017989.2:n.143-19264C>T
NM_001017989.3:c.143-19264C>T	NP_001017989.2:n.143-19264C>T
NM_025136.3:c.*4794C>T	NP_079412.1:n.*4794C>T
ENST00000263275.4:c.*4794C>T	ENSP00000263275.3:n.*4794C>T
ENST00000323060.3:c.143-19264C>T	ENSP00000319817.3:n.143-19264C>T
ENST00000323060.4:c.143-19264C>T	ENSP00000319817.3:n.143-19264C>T
XM_011527348.1:c.-17-19264C>T	XP_011525650.1:n.-17-19264C>T