Canonical Allele Identifier: CA156253971

Gene: RP9

Linked Data

• dbSNP Id: rs976360353
• gnomAD v3: 7-33096366-T-G
• gnomAD v4: 7-33096366-T-G
• MyVariant Identifiers: chr7:g.33135978T>G (hg19) ; chr7:g.33096366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096366T>G , CM000669.2:g.33096366T>G	GRCh38
NC_000007.13:g.33135978T>G , CM000669.1:g.33135978T>G	GRCh37
NC_000007.12:g.33102503T>G	NCBI36
NG_012968.1:g.18025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+127A>C
ENST00000492391.2:n.1591+127A>C
ENST00000682645.1:n.3538+127A>C
ENST00000683432.1:c.*642+127A>C	ENSP00000508174.1:n.*642+127A>C
ENST00000684207.1:c.*123A>C	ENSP00000506942.1:n.*123A>C
ENST00000297157.8:c.467+127A>C MANE Select	ENSP00000297157.3:n.467+127A>C
ENST00000297157.7:c.467+127A>C	ENSP00000297157.3:n.467+127A>C
ENST00000448915.1:c.365+127A>C	ENSP00000411577.1:n.365+127A>C
NM_203288.1:c.467+127A>C	NP_976033.1:n.467+127A>C
XM_011515468.1:c.365+127A>C	XP_011513770.1:n.365+127A>C
XM_011515468.3:c.365+127A>C	XP_011513770.1:n.365+127A>C
NM_203288.2:c.467+127A>C MANE Select	NP_976033.1:n.467+127A>C