Canonical Allele Identifier: CA4213716

Gene: RP9

Linked Data

• dbSNP Id: rs780856926
• ExAC: 7:33136123 C / T
• gnomAD v2: 7-33136123-C-T
• gnomAD v3: 7-33096511-C-T
• gnomAD v4: 7-33096511-C-T
• MyVariant Identifiers: chr7:g.33136123C>T (hg19) ; chr7:g.33096511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096511C>T , CM000669.2:g.33096511C>T	GRCh38
NC_000007.13:g.33136123C>T , CM000669.1:g.33136123C>T	GRCh37
NC_000007.12:g.33102648C>T	NCBI36
NG_012968.1:g.17880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2422G>A
ENST00000492391.2:n.1573G>A
ENST00000682645.1:n.3520G>A
ENST00000683432.1:c.*624G>A	ENSP00000508174.1:n.*624G>A
ENST00000684207.1:c.449G>A	ENSP00000506942.1:p.Arg150Gln
ENST00000297157.8:c.449G>A MANE Select	ENSP00000297157.3:p.Arg150Gln
ENST00000297157.7:c.449G>A	ENSP00000297157.3:p.Arg150Gln
ENST00000448915.1:c.347G>A	ENSP00000411577.1:p.Arg116Gln
NM_203288.1:c.449G>A	NP_976033.1:p.Arg150Gln
XM_011515468.1:c.347G>A	XP_011513770.1:p.Arg116Gln
XM_011515468.3:c.347G>A	XP_011513770.1:p.Arg116Gln
NM_203288.2:c.449G>A MANE Select	NP_976033.1:p.Arg150Gln