Canonical Allele Identifier: CA4213721

Gene: RP9

Linked Data

• dbSNP Id: rs772674019
• ExAC: 7:33136147 T / C
• gnomAD v2: 7-33136147-T-C
• gnomAD v3: 7-33096535-T-C
• gnomAD v4: 7-33096535-T-C
• COSMIC: COSM3768350
• MyVariant Identifiers: chr7:g.33136147T>C (hg19) ; chr7:g.33096535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096535T>C , CM000669.2:g.33096535T>C	GRCh38
NC_000007.13:g.33136147T>C , CM000669.1:g.33136147T>C	GRCh37
NC_000007.12:g.33102672T>C	NCBI36
NG_012968.1:g.17856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2398A>G
ENST00000492391.2:n.1549A>G
ENST00000682645.1:n.3496A>G
ENST00000683432.1:c.*600A>G	ENSP00000508174.1:n.*600A>G
ENST00000684207.1:c.425A>G	ENSP00000506942.1:p.Tyr142Cys
ENST00000297157.8:c.425A>G MANE Select	ENSP00000297157.3:p.Tyr142Cys
ENST00000297157.7:c.425A>G	ENSP00000297157.3:p.Tyr142Cys
ENST00000448915.1:c.323A>G	ENSP00000411577.1:p.Tyr108Cys
NM_203288.1:c.425A>G	NP_976033.1:p.Tyr142Cys
XM_011515468.1:c.323A>G	XP_011513770.1:p.Tyr108Cys
XM_011515468.3:c.323A>G	XP_011513770.1:p.Tyr108Cys
NM_203288.2:c.425A>G MANE Select	NP_976033.1:p.Tyr142Cys