Canonical Allele Identifier: CA234811

Gene: RP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096497C>T , CM000669.2:g.33096497C>T	GRCh38
NC_000007.13:g.33136109C>T , CM000669.1:g.33136109C>T	GRCh37
NC_000007.12:g.33102634C>T	NCBI36
NG_012968.1:g.17894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2436G>A
ENST00000492391.2:n.1587G>A
ENST00000682645.1:n.3534G>A
ENST00000683432.1:c.*638G>A	ENSP00000508174.1:n.*638G>A
ENST00000684207.1:c.463G>A	ENSP00000506942.1:p.Val155Ile
ENST00000297157.8:c.463G>A MANE Select	ENSP00000297157.3:p.Val155Ile
ENST00000297157.7:c.463G>A	ENSP00000297157.3:p.Val155Ile
ENST00000448915.1:c.361G>A	ENSP00000411577.1:p.Val121Ile
NM_203288.1:c.463G>A	NP_976033.1:p.Val155Ile
XM_011515468.1:c.361G>A	XP_011513770.1:p.Val121Ile
XM_011515468.3:c.361G>A	XP_011513770.1:p.Val121Ile
NM_203288.2:c.463G>A MANE Select	NP_976033.1:p.Val155Ile