Canonical Allele Identifier: CA2682311798

Gene: RP9

Linked Data

• gnomAD v4: 7-33096363-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096363C>A , CM000669.2:g.33096363C>A	GRCh38
NC_000007.13:g.33135975C>A , CM000669.1:g.33135975C>A	GRCh37
NC_000007.12:g.33102500C>A	NCBI36
NG_012968.1:g.18028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+130G>T
ENST00000492391.2:n.1591+130G>T
ENST00000682645.1:n.3538+130G>T
ENST00000683432.1:c.*642+130G>T	ENSP00000508174.1:n.*642+130G>T
ENST00000684207.1:c.*126G>T	ENSP00000506942.1:n.*126G>T
ENST00000297157.8:c.467+130G>T MANE Select	ENSP00000297157.3:n.467+130G>T
ENST00000297157.7:c.467+130G>T	ENSP00000297157.3:n.467+130G>T
ENST00000448915.1:c.365+130G>T	ENSP00000411577.1:n.365+130G>T
NM_203288.1:c.467+130G>T	NP_976033.1:n.467+130G>T
XM_011515468.1:c.365+130G>T	XP_011513770.1:n.365+130G>T
XM_011515468.3:c.365+130G>T	XP_011513770.1:n.365+130G>T
NM_203288.2:c.467+130G>T MANE Select	NP_976033.1:n.467+130G>T