Canonical Allele Identifier: CA320617
Gene: COQ9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57456630C>G , CM000678.2:g.57456630C>G GRCh38
NC_000016.9:g.57490542C>G , CM000678.1:g.57490542C>G GRCh37
NC_000016.8:g.56048043C>G NCBI36
NG_027696.1:g.14206C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262507.11:c.505C>G MANE Select ENSP00000262507.5:p.Gln169Glu
ENST00000262507.10:c.505C>G ENSP00000262507.5:p.Gln169Glu
ENST00000562426.5:n.504+4C>G
ENST00000562734.5:n.529C>G
ENST00000563166.1:c.303+3715C>G ENSP00000455495.1:n.303+3715C>G
ENST00000563391.1:c.97C>G ENSP00000455516.1:p.Gln33Glu
ENST00000564115.5:c.505C>G ENSP00000455256.1:p.Gln169Glu
ENST00000564655.5:c.517C>G ENSP00000454992.1:p.Gln173Glu
ENST00000565964.5:c.379-1616C>G ENSP00000458023.1:n.379-1616C>G
ENST00000567072.5:c.501+4C>G ENSP00000456728.1:n.501+4C>G
ENST00000567480.1:n.445C>G
ENST00000567576.1:n.228C>G
ENST00000567933.5:c.379-2935C>G ENSP00000456174.1:n.379-2935C>G
ENST00000568790.5:n.529C>G
NM_020312.3:c.505C>G NP_064708.1:p.Gln169Glu
NM_020312.4:c.505C>G MANE Select NP_064708.1:p.Gln169Glu