Canonical Allele Identifier: CA367181223

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136103A>T (hg19) ; chr7:g.33096491A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096491A>T , CM000669.2:g.33096491A>T	GRCh38
NC_000007.13:g.33136103A>T , CM000669.1:g.33136103A>T	GRCh37
NC_000007.12:g.33102628A>T	NCBI36
NG_012968.1:g.17900T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+2T>A
ENST00000492391.2:n.1591+2T>A
ENST00000682645.1:n.3538+2T>A
ENST00000683432.1:c.*642+2T>A	ENSP00000508174.1:n.*642+2T>A
ENST00000684207.1:c.469T>A	ENSP00000506942.1:p.Ter157Arg
ENST00000297157.8:c.467+2T>A MANE Select	ENSP00000297157.3:n.467+2T>A
ENST00000297157.7:c.467+2T>A	ENSP00000297157.3:n.467+2T>A
ENST00000448915.1:c.365+2T>A	ENSP00000411577.1:n.365+2T>A
NM_203288.1:c.467+2T>A	NP_976033.1:n.467+2T>A
XM_011515468.1:c.365+2T>A	XP_011513770.1:n.365+2T>A
XM_011515468.3:c.365+2T>A	XP_011513770.1:n.365+2T>A
NM_203288.2:c.467+2T>A MANE Select	NP_976033.1:n.467+2T>A