Canonical Allele Identifier: CA367181419
Gene: RP9 HGNC NCBI

Linked Data

dbSNP Id: rs1788336833

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096526A>G , CM000669.2:g.33096526A>G GRCh38
NC_000007.13:g.33136138A>G , CM000669.1:g.33136138A>G GRCh37
NC_000007.12:g.33102663A>G NCBI36
NG_012968.1:g.17865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2407T>C
ENST00000492391.2:n.1558T>C
ENST00000682645.1:n.3505T>C
ENST00000683432.1:c.*609T>C ENSP00000508174.1:n.*609T>C
ENST00000684207.1:c.434T>C ENSP00000506942.1:p.Ile145Thr
ENST00000297157.8:c.434T>C MANE Select ENSP00000297157.3:p.Ile145Thr
ENST00000297157.7:c.434T>C ENSP00000297157.3:p.Ile145Thr
ENST00000448915.1:c.332T>C ENSP00000411577.1:p.Ile111Thr
NM_203288.1:c.434T>C NP_976033.1:p.Ile145Thr
XM_011515468.1:c.332T>C XP_011513770.1:p.Ile111Thr
XM_011515468.3:c.332T>C XP_011513770.1:p.Ile111Thr
NM_203288.2:c.434T>C MANE Select NP_976033.1:p.Ile145Thr