Canonical Allele Identifier: CA4213724

Gene: RP9

Linked Data

• dbSNP Id: rs771235941
• ExAC: 7:33136175 T / C
• gnomAD v2: 7-33136175-T-C
• gnomAD v4: 7-33096563-T-C
• MyVariant Identifiers: chr7:g.33136175T>C (hg19) ; chr7:g.33096563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096563T>C , CM000669.2:g.33096563T>C	GRCh38
NC_000007.13:g.33136175T>C , CM000669.1:g.33136175T>C	GRCh37
NC_000007.12:g.33102700T>C	NCBI36
NG_012968.1:g.17828A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2379-9A>G
ENST00000492391.2:n.1530-9A>G
ENST00000682645.1:n.3477-9A>G
ENST00000683432.1:c.*581-9A>G	ENSP00000508174.1:n.*581-9A>G
ENST00000684207.1:c.406-9A>G	ENSP00000506942.1:n.406-9A>G
ENST00000297157.8:c.406-9A>G MANE Select	ENSP00000297157.3:n.406-9A>G
ENST00000297157.7:c.406-9A>G	ENSP00000297157.3:n.406-9A>G
ENST00000448915.1:c.304-9A>G	ENSP00000411577.1:n.304-9A>G
NM_203288.1:c.406-9A>G	NP_976033.1:n.406-9A>G
XM_011515468.1:c.304-9A>G	XP_011513770.1:n.304-9A>G
XM_011515468.3:c.304-9A>G	XP_011513770.1:n.304-9A>G
NM_203288.2:c.406-9A>G MANE Select	NP_976033.1:n.406-9A>G