Canonical Allele Identifier: CA2842126316
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096399A>T , CM000669.2:g.33096399A>T GRCh38
NC_000007.13:g.33136011A>T , CM000669.1:g.33136011A>T GRCh37
NC_000007.12:g.33102536A>T NCBI36
NG_012968.1:g.17992T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2440+94T>A
ENST00000492391.2:n.1591+94T>A
ENST00000682645.1:n.3538+94T>A
ENST00000683432.1:c.*642+94T>A ENSP00000508174.1:n.*642+94T>A
ENST00000684207.1:c.*90T>A ENSP00000506942.1:n.*90T>A
ENST00000297157.8:c.467+94T>A MANE Select ENSP00000297157.3:n.467+94T>A
ENST00000297157.7:c.467+94T>A ENSP00000297157.3:n.467+94T>A
ENST00000448915.1:c.365+94T>A ENSP00000411577.1:n.365+94T>A
NM_203288.1:c.467+94T>A NP_976033.1:n.467+94T>A
XM_011515468.1:c.365+94T>A XP_011513770.1:n.365+94T>A
XM_011515468.3:c.365+94T>A XP_011513770.1:n.365+94T>A
NM_203288.2:c.467+94T>A MANE Select NP_976033.1:n.467+94T>A