Canonical Allele Identifier: CA367181463

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136143G>T (hg19) ; chr7:g.33096531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096531G>T , CM000669.2:g.33096531G>T	GRCh38
NC_000007.13:g.33136143G>T , CM000669.1:g.33136143G>T	GRCh37
NC_000007.12:g.33102668G>T	NCBI36
NG_012968.1:g.17860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2402C>A
ENST00000492391.2:n.1553C>A
ENST00000682645.1:n.3500C>A
ENST00000683432.1:c.*604C>A	ENSP00000508174.1:n.*604C>A
ENST00000684207.1:c.429C>A	ENSP00000506942.1:p.Asp143Glu
ENST00000297157.8:c.429C>A MANE Select	ENSP00000297157.3:p.Asp143Glu
ENST00000297157.7:c.429C>A	ENSP00000297157.3:p.Asp143Glu
ENST00000448915.1:c.327C>A	ENSP00000411577.1:p.Asp109Glu
NM_203288.1:c.429C>A	NP_976033.1:p.Asp143Glu
XM_011515468.1:c.327C>A	XP_011513770.1:p.Asp109Glu
XM_011515468.3:c.327C>A	XP_011513770.1:p.Asp109Glu
NM_203288.2:c.429C>A MANE Select	NP_976033.1:p.Asp143Glu