Canonical Allele Identifier: CA4213715

Gene: RP9

Linked Data

• ClinVar Variation Id: 1534495
• ClinVar RCV Id: RCV002087705
• dbSNP Id: rs751408194
• ExAC: 7:33136110 G / A
• gnomAD v2: 7-33136110-G-A
• gnomAD v3: 7-33096498-G-A
• gnomAD v4: 7-33096498-G-A
• MyVariant Identifiers: chr7:g.33136110G>A (hg19) ; chr7:g.33096498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096498G>A , CM000669.2:g.33096498G>A	GRCh38
NC_000007.13:g.33136110G>A , CM000669.1:g.33136110G>A	GRCh37
NC_000007.12:g.33102635G>A	NCBI36
NG_012968.1:g.17893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2435C>T
ENST00000492391.2:n.1586C>T
ENST00000682645.1:n.3533C>T
ENST00000683432.1:c.*637C>T	ENSP00000508174.1:n.*637C>T
ENST00000684207.1:c.462C>T	ENSP00000506942.1:p.Asp154=
ENST00000297157.8:c.462C>T MANE Select	ENSP00000297157.3:p.Asp154=
ENST00000297157.7:c.462C>T	ENSP00000297157.3:p.Asp154=
ENST00000448915.1:c.360C>T	ENSP00000411577.1:p.Asp120=
NM_203288.1:c.462C>T	NP_976033.1:p.Asp154=
XM_011515468.1:c.360C>T	XP_011513770.1:p.Asp120=
XM_011515468.3:c.360C>T	XP_011513770.1:p.Asp120=
NM_203288.2:c.462C>T MANE Select	NP_976033.1:p.Asp154=