Canonical Allele Identifier: CA367181419

Gene: RP9

Linked Data

• dbSNP Id: rs1788336833
• MyVariant Identifiers: chr7:g.33136138A>G (hg19) ; chr7:g.33096526A>G (hg38)

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