Canonical Allele Identifier: CA367181270

Gene: RP9

Linked Data

• gnomAD v4: 7-33096502-T-C
• MyVariant Identifiers: chr7:g.33136114T>C (hg19) ; chr7:g.33096502T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096502T>C , CM000669.2:g.33096502T>C	GRCh38
NC_000007.13:g.33136114T>C , CM000669.1:g.33136114T>C	GRCh37
NC_000007.12:g.33102639T>C	NCBI36
NG_012968.1:g.17889A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2431A>G
ENST00000492391.2:n.1582A>G
ENST00000682645.1:n.3529A>G
ENST00000683432.1:c.*633A>G	ENSP00000508174.1:n.*633A>G
ENST00000684207.1:c.458A>G	ENSP00000506942.1:p.Lys153Arg
ENST00000297157.8:c.458A>G MANE Select	ENSP00000297157.3:p.Lys153Arg
ENST00000297157.7:c.458A>G	ENSP00000297157.3:p.Lys153Arg
ENST00000448915.1:c.356A>G	ENSP00000411577.1:p.Lys119Arg
NM_203288.1:c.458A>G	NP_976033.1:p.Lys153Arg
XM_011515468.1:c.356A>G	XP_011513770.1:p.Lys119Arg
XM_011515468.3:c.356A>G	XP_011513770.1:p.Lys119Arg
NM_203288.2:c.458A>G MANE Select	NP_976033.1:p.Lys153Arg