Canonical Allele Identifier: CA367181624
Gene: RP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096551G>A , CM000669.2:g.33096551G>A GRCh38
NC_000007.13:g.33136163G>A , CM000669.1:g.33136163G>A GRCh37
NC_000007.12:g.33102688G>A NCBI36
NG_012968.1:g.17840C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474370.2:n.2382C>T
ENST00000492391.2:n.1533C>T
ENST00000682645.1:n.3480C>T
ENST00000683432.1:c.*584C>T ENSP00000508174.1:n.*584C>T
ENST00000684207.1:c.409C>T ENSP00000506942.1:p.His137Tyr
ENST00000297157.8:c.409C>T MANE Select ENSP00000297157.3:p.His137Tyr
ENST00000297157.7:c.409C>T ENSP00000297157.3:p.His137Tyr
ENST00000448915.1:c.307C>T ENSP00000411577.1:p.His103Tyr
NM_203288.1:c.409C>T NP_976033.1:p.His137Tyr
XM_011515468.1:c.307C>T XP_011513770.1:p.His103Tyr
XM_011515468.3:c.307C>T XP_011513770.1:p.His103Tyr
NM_203288.2:c.409C>T MANE Select NP_976033.1:p.His137Tyr