Canonical Allele Identifier: CA1698611586
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096529A= , CM000669.2:g.33096529A= GRCh38
NC_000007.13:g.33136141A= , CM000669.1:g.33136141A= GRCh37
NC_000007.12:g.33102666A= NCBI36
NG_012968.1:g.17862T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2404T=
ENST00000492391.2:n.1555T=
ENST00000682645.1:n.3502T=
ENST00000683432.1:c.*606T= ENSP00000508174.1:n.*606T=
ENST00000684207.1:c.431T= ENSP00000506942.1:p.Ile144=
ENST00000297157.8:c.431T= MANE Select ENSP00000297157.3:p.Ile144=
ENST00000297157.7:c.431T= ENSP00000297157.3:p.Ile144=
ENST00000448915.1:c.329T= ENSP00000411577.1:p.Ile110=
NM_203288.1:c.431T= NP_976033.1:p.Ile144=
XM_011515468.1:c.329T= XP_011513770.1:p.Ile110=
XM_011515468.3:c.329T= XP_011513770.1:p.Ile110=
NM_203288.2:c.431T= MANE Select NP_976033.1:p.Ile144=