Canonical Allele Identifier: CA1698611513
Gene: RP9 HGNC NCBI

Linked Data

dbSNP Id: rs1788334131

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096335A>G , CM000669.2:g.33096335A>G GRCh38
NC_000007.13:g.33135947A>G , CM000669.1:g.33135947A>G GRCh37
NC_000007.12:g.33102472A>G NCBI36
NG_012968.1:g.18056T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+158T>C
ENST00000492391.2:n.1591+158T>C
ENST00000682645.1:n.3538+158T>C
ENST00000683432.1:c.*642+158T>C ENSP00000508174.1:n.*642+158T>C
ENST00000684207.1:c.*154T>C ENSP00000506942.1:n.*154T>C
ENST00000297157.8:c.467+158T>C MANE Select ENSP00000297157.3:n.467+158T>C
ENST00000297157.7:c.467+158T>C ENSP00000297157.3:n.467+158T>C
ENST00000448915.1:c.365+158T>C ENSP00000411577.1:n.365+158T>C
NM_203288.1:c.467+158T>C NP_976033.1:n.467+158T>C
XM_011515468.1:c.365+158T>C XP_011513770.1:n.365+158T>C
XM_011515468.3:c.365+158T>C XP_011513770.1:n.365+158T>C
NM_203288.2:c.467+158T>C MANE Select NP_976033.1:n.467+158T>C