Canonical Allele Identifier: CA573515778

Gene: RP9

Linked Data

• ClinVar Variation Id: 1940715
• ClinVar RCV Id: RCV002658552
• dbSNP Id: rs1247985022
• gnomAD v2: 7-33136091-C-A
• gnomAD v4: 7-33096479-C-A
• MyVariant Identifiers: chr7:g.33136091C>A (hg19) ; chr7:g.33096479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096479C>A , CM000669.2:g.33096479C>A	GRCh38
NC_000007.13:g.33136091C>A , CM000669.1:g.33136091C>A	GRCh37
NC_000007.12:g.33102616C>A	NCBI36
NG_012968.1:g.17912G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2440+14G>T
ENST00000492391.2:n.1591+14G>T
ENST00000682645.1:n.3538+14G>T
ENST00000683432.1:c.*642+14G>T	ENSP00000508174.1:n.*642+14G>T
ENST00000684207.1:c.*10G>T	ENSP00000506942.1:n.*10G>T
ENST00000297157.8:c.467+14G>T MANE Select	ENSP00000297157.3:n.467+14G>T
ENST00000297157.7:c.467+14G>T	ENSP00000297157.3:n.467+14G>T
ENST00000448915.1:c.365+14G>T	ENSP00000411577.1:n.365+14G>T
NM_203288.1:c.467+14G>T	NP_976033.1:n.467+14G>T
XM_011515468.1:c.365+14G>T	XP_011513770.1:n.365+14G>T
XM_011515468.3:c.365+14G>T	XP_011513770.1:n.365+14G>T
NM_203288.2:c.467+14G>T MANE Select	NP_976033.1:n.467+14G>T