Canonical Allele Identifier: CA2224622115
Community Standard Title: NM_020312.4(COQ9):c.730C= (p.Arg244=)
Gene: COQ9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.57459583C= , CM000678.2:g.57459583C= GRCh38
NC_000016.9:g.57493495C= , CM000678.1:g.57493495C= GRCh37
NC_000016.8:g.56050996C= NCBI36
NG_027696.1:g.17159C=

Transcript Alleles

HGVS Amino-acid Change
NM_020312.4:c.730C= MANE Select NP_064708.1:p.Arg244=
ENST00000262507.11:c.730C= MANE Select ENSP00000262507.5:p.Arg244=
NM_020312.3:c.730C= NP_064708.1:p.Arg244=
ENST00000262507.10:c.730C= ENSP00000262507.5:p.Arg244=
ENST00000563166.1:c.304-1589C= ENSP00000455495.1:n.304-1589C=
ENST00000564115.5:c.*78C= ENSP00000455256.1:n.*78C=
ENST00000564655.5:c.742C= ENSP00000454992.1:p.Arg248=
ENST00000565964.5:c.502C= ENSP00000458023.1:p.Arg168=
ENST00000567072.5:c.625C= ENSP00000456728.1:p.Arg209=
ENST00000567933.5:c.397C= ENSP00000456174.1:p.Arg133=
ENST00000569980.1:n.245C=