Canonical Allele Identifier: CA2682311835

Gene: RP9

Linked Data

• gnomAD v4: 7-33096421-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096421A>G , CM000669.2:g.33096421A>G	GRCh38
NC_000007.13:g.33136033A>G , CM000669.1:g.33136033A>G	GRCh37
NC_000007.12:g.33102558A>G	NCBI36
NG_012968.1:g.17970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+72T>C
ENST00000492391.2:n.1591+72T>C
ENST00000682645.1:n.3538+72T>C
ENST00000683432.1:c.*642+72T>C	ENSP00000508174.1:n.*642+72T>C
ENST00000684207.1:c.*68T>C	ENSP00000506942.1:n.*68T>C
ENST00000297157.8:c.467+72T>C MANE Select	ENSP00000297157.3:n.467+72T>C
ENST00000297157.7:c.467+72T>C	ENSP00000297157.3:n.467+72T>C
ENST00000448915.1:c.365+72T>C	ENSP00000411577.1:n.365+72T>C
NM_203288.1:c.467+72T>C	NP_976033.1:n.467+72T>C
XM_011515468.1:c.365+72T>C	XP_011513770.1:n.365+72T>C
XM_011515468.3:c.365+72T>C	XP_011513770.1:n.365+72T>C
NM_203288.2:c.467+72T>C MANE Select	NP_976033.1:n.467+72T>C