Canonical Allele Identifier: CA4213723

Gene: RP9

Linked Data

• dbSNP Id: rs747396655
• ExAC: 7:33136172 G / A
• gnomAD v2: 7-33136172-G-A
• gnomAD v4: 7-33096560-G-A
• MyVariant Identifiers: chr7:g.33136172G>A (hg19) ; chr7:g.33096560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096560G>A , CM000669.2:g.33096560G>A	GRCh38
NC_000007.13:g.33136172G>A , CM000669.1:g.33136172G>A	GRCh37
NC_000007.12:g.33102697G>A	NCBI36
NG_012968.1:g.17831C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-6C>T
ENST00000492391.2:n.1530-6C>T
ENST00000682645.1:n.3477-6C>T
ENST00000683432.1:c.*581-6C>T	ENSP00000508174.1:n.*581-6C>T
ENST00000684207.1:c.406-6C>T	ENSP00000506942.1:n.406-6C>T
ENST00000297157.8:c.406-6C>T MANE Select	ENSP00000297157.3:n.406-6C>T
ENST00000297157.7:c.406-6C>T	ENSP00000297157.3:n.406-6C>T
ENST00000448915.1:c.304-6C>T	ENSP00000411577.1:n.304-6C>T
NM_203288.1:c.406-6C>T	NP_976033.1:n.406-6C>T
XM_011515468.1:c.304-6C>T	XP_011513770.1:n.304-6C>T
XM_011515468.3:c.304-6C>T	XP_011513770.1:n.304-6C>T
NM_203288.2:c.406-6C>T MANE Select	NP_976033.1:n.406-6C>T