Canonical Allele Identifier: CA156254093

Gene: RP9

Linked Data

• ClinVar Variation Id: 2419341
• ClinVar RCV Id: RCV003115226
• dbSNP Id: rs1005879075
• gnomAD v4: 7-33096558-A-G
• MyVariant Identifiers: chr7:g.33136170A>G (hg19) ; chr7:g.33096558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096558A>G , CM000669.2:g.33096558A>G	GRCh38
NC_000007.13:g.33136170A>G , CM000669.1:g.33136170A>G	GRCh37
NC_000007.12:g.33102695A>G	NCBI36
NG_012968.1:g.17833T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2379-4T>C
ENST00000492391.2:n.1530-4T>C
ENST00000682645.1:n.3477-4T>C
ENST00000683432.1:c.*581-4T>C	ENSP00000508174.1:n.*581-4T>C
ENST00000684207.1:c.406-4T>C	ENSP00000506942.1:n.406-4T>C
ENST00000297157.8:c.406-4T>C MANE Select	ENSP00000297157.3:n.406-4T>C
ENST00000297157.7:c.406-4T>C	ENSP00000297157.3:n.406-4T>C
ENST00000448915.1:c.304-4T>C	ENSP00000411577.1:n.304-4T>C
NM_203288.1:c.406-4T>C	NP_976033.1:n.406-4T>C
XM_011515468.1:c.304-4T>C	XP_011513770.1:n.304-4T>C
XM_011515468.3:c.304-4T>C	XP_011513770.1:n.304-4T>C
NM_203288.2:c.406-4T>C MANE Select	NP_976033.1:n.406-4T>C