Canonical Allele Identifier: CA367181412

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136136G>C (hg19) ; chr7:g.33096524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096524G>C , CM000669.2:g.33096524G>C	GRCh38
NC_000007.13:g.33136136G>C , CM000669.1:g.33136136G>C	GRCh37
NC_000007.12:g.33102661G>C	NCBI36
NG_012968.1:g.17867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2409C>G
ENST00000492391.2:n.1560C>G
ENST00000682645.1:n.3507C>G
ENST00000683432.1:c.*611C>G	ENSP00000508174.1:n.*611C>G
ENST00000684207.1:c.436C>G	ENSP00000506942.1:p.Arg146Gly
ENST00000297157.8:c.436C>G MANE Select	ENSP00000297157.3:p.Arg146Gly
ENST00000297157.7:c.436C>G	ENSP00000297157.3:p.Arg146Gly
ENST00000448915.1:c.334C>G	ENSP00000411577.1:p.Arg112Gly
NM_203288.1:c.436C>G	NP_976033.1:p.Arg146Gly
XM_011515468.1:c.334C>G	XP_011513770.1:p.Arg112Gly
XM_011515468.3:c.334C>G	XP_011513770.1:p.Arg112Gly
NM_203288.2:c.436C>G MANE Select	NP_976033.1:p.Arg146Gly