Canonical Allele Identifier: CA340205
Gene: OPA3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45553912C>G , CM000681.2:g.45553912C>G GRCh38
NC_000019.9:g.46057170C>G , CM000681.1:g.46057170C>G GRCh37
NC_000019.8:g.50749010C>G NCBI36
NG_013332.1:g.35953G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323060.4:c.143-24456G>C ENSP00000319817.3:n.143-24456G>C
ENST00000263275.5:c.143-1G>C MANE Select ENSP00000263275.4:n.143-1G>C
ENST00000263275.4:c.143-1G>C ENSP00000263275.3:n.143-1G>C
ENST00000323060.3:c.143-24456G>C ENSP00000319817.3:n.143-24456G>C
ENST00000544371.1:c.-17-1G>C ENSP00000442839.1:n.-17-1G>C
NM_001017989.2:c.143-24456G>C NP_001017989.2:n.143-24456G>C
NM_025136.3:c.143-1G>C NP_079412.1:n.143-1G>C
XM_005259278.2:c.-17-1G>C XP_005259335.1:n.-17-1G>C
XM_006723403.2:c.-17-1G>C XP_006723466.1:n.-17-1G>C
XM_011527348.1:c.-17-24456G>C XP_011525650.1:n.-17-24456G>C
XM_006723403.4:c.-17-1G>C XP_006723466.1:n.-17-1G>C
NM_001017989.3:c.143-24456G>C NP_001017989.2:n.143-24456G>C
NM_025136.4:c.143-1G>C MANE Select NP_079412.1:n.143-1G>C
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