Canonical Allele Identifier: CA454342357

Gene: RP9

Linked Data

• dbSNP Id: rs1294523355
• gnomAD v2: 7-33136106-T-G
• gnomAD v4: 7-33096494-T-G
• MyVariant Identifiers: chr7:g.33136106T>G (hg19) ; chr7:g.33096494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096494T>G , CM000669.2:g.33096494T>G	GRCh38
NC_000007.13:g.33136106T>G , CM000669.1:g.33136106T>G	GRCh37
NC_000007.12:g.33102631T>G	NCBI36
NG_012968.1:g.17897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2439A>C
ENST00000492391.2:n.1590A>C
ENST00000682645.1:n.3537A>C
ENST00000683432.1:c.*641A>C	ENSP00000508174.1:n.*641A>C
ENST00000684207.1:c.466A>C	ENSP00000506942.1:p.Arg156=
ENST00000297157.8:c.466A>C MANE Select	ENSP00000297157.3:p.Arg156=
ENST00000297157.7:c.466A>C	ENSP00000297157.3:p.Arg156=
ENST00000448915.1:c.364A>C	ENSP00000411577.1:p.Arg122=
NM_203288.1:c.466A>C	NP_976033.1:p.Arg156=
XM_011515468.1:c.364A>C	XP_011513770.1:p.Arg122=
XM_011515468.3:c.364A>C	XP_011513770.1:p.Arg122=
NM_203288.2:c.466A>C MANE Select	NP_976033.1:p.Arg156=