Canonical Allele Identifier: CA2578864358

Gene: RP9

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096443T>A , CM000669.2:g.33096443T>A	GRCh38
NC_000007.13:g.33136055T>A , CM000669.1:g.33136055T>A	GRCh37
NC_000007.12:g.33102580T>A	NCBI36
NG_012968.1:g.17948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+50A>T
ENST00000492391.2:n.1591+50A>T
ENST00000682645.1:n.3538+50A>T
ENST00000683432.1:c.*642+50A>T	ENSP00000508174.1:n.*642+50A>T
ENST00000684207.1:c.*46A>T	ENSP00000506942.1:n.*46A>T
ENST00000297157.8:c.467+50A>T MANE Select	ENSP00000297157.3:n.467+50A>T
ENST00000297157.7:c.467+50A>T	ENSP00000297157.3:n.467+50A>T
ENST00000448915.1:c.365+50A>T	ENSP00000411577.1:n.365+50A>T
NM_203288.1:c.467+50A>T	NP_976033.1:n.467+50A>T
XM_011515468.1:c.365+50A>T	XP_011513770.1:n.365+50A>T
XM_011515468.3:c.365+50A>T	XP_011513770.1:n.365+50A>T
NM_203288.2:c.467+50A>T MANE Select	NP_976033.1:n.467+50A>T