Canonical Allele Identifier: CA367181227

Gene: RP9

Linked Data

• dbSNP Id: rs1219636160
• gnomAD v2: 7-33136104-C-T
• gnomAD v4: 7-33096492-C-T
• MyVariant Identifiers: chr7:g.33136104C>T (hg19) ; chr7:g.33096492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096492C>T , CM000669.2:g.33096492C>T	GRCh38
NC_000007.13:g.33136104C>T , CM000669.1:g.33136104C>T	GRCh37
NC_000007.12:g.33102629C>T	NCBI36
NG_012968.1:g.17899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+1G>A
ENST00000492391.2:n.1591+1G>A
ENST00000682645.1:n.3538+1G>A
ENST00000683432.1:c.*642+1G>A	ENSP00000508174.1:n.*642+1G>A
ENST00000684207.1:c.468G>A	ENSP00000506942.1:p.Arg156=
ENST00000297157.8:c.467+1G>A MANE Select	ENSP00000297157.3:n.467+1G>A
ENST00000297157.7:c.467+1G>A	ENSP00000297157.3:n.467+1G>A
ENST00000448915.1:c.365+1G>A	ENSP00000411577.1:n.365+1G>A
NM_203288.1:c.467+1G>A	NP_976033.1:n.467+1G>A
XM_011515468.1:c.365+1G>A	XP_011513770.1:n.365+1G>A
XM_011515468.3:c.365+1G>A	XP_011513770.1:n.365+1G>A
NM_203288.2:c.467+1G>A MANE Select	NP_976033.1:n.467+1G>A