Canonical Allele Identifier: CA454342427

Gene: RP9

Linked Data

• dbSNP Id: rs1788337404
• MyVariant Identifiers: chr7:g.33136164T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096552T>G , CM000669.2:g.33096552T>G	GRCh38
NC_000007.13:g.33136164T>G , CM000669.1:g.33136164T>G	GRCh37
NC_000007.12:g.33102689T>G	NCBI36
NG_012968.1:g.17839A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2381A>C
ENST00000492391.2:n.1532A>C
ENST00000682645.1:n.3479A>C
ENST00000683432.1:c.*583A>C	ENSP00000508174.1:n.*583A>C
ENST00000684207.1:c.408A>C	ENSP00000506942.1:p.Ala136=
ENST00000297157.8:c.408A>C MANE Select	ENSP00000297157.3:p.Ala136=
ENST00000297157.7:c.408A>C	ENSP00000297157.3:p.Ala136=
ENST00000448915.1:c.306A>C	ENSP00000411577.1:p.Ala102=
NM_203288.1:c.408A>C	NP_976033.1:p.Ala136=
XM_011515468.1:c.306A>C	XP_011513770.1:p.Ala102=
XM_011515468.3:c.306A>C	XP_011513770.1:p.Ala102=
NM_203288.2:c.408A>C MANE Select	NP_976033.1:p.Ala136=