Canonical Allele Identifier: CA252734
Gene: RP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3334
ClinVar RCV Id: RCV000003498
dbSNP Id: rs104894037

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096550T>A , CM000669.2:g.33096550T>A GRCh38
NC_000007.13:g.33136162T>A , CM000669.1:g.33136162T>A GRCh37
NC_000007.12:g.33102687T>A NCBI36
NG_012968.1:g.17841A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474370.2:n.2383A>T
ENST00000492391.2:n.1534A>T
ENST00000682645.1:n.3481A>T
ENST00000683432.1:c.*585A>T ENSP00000508174.1:n.*585A>T
ENST00000684207.1:c.410A>T ENSP00000506942.1:p.His137Leu
ENST00000297157.8:c.410A>T MANE Select ENSP00000297157.3:p.His137Leu
ENST00000297157.7:c.410A>T ENSP00000297157.3:p.His137Leu
ENST00000448915.1:c.308A>T ENSP00000411577.1:p.His103Leu
NM_203288.1:c.410A>T NP_976033.1:p.His137Leu
XM_011515468.1:c.308A>T XP_011513770.1:p.His103Leu
XM_011515468.3:c.308A>T XP_011513770.1:p.His103Leu
NM_203288.2:c.410A>T MANE Select NP_976033.1:p.His137Leu