Canonical Allele Identifier: CA367181258

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136111T>G (hg19) ; chr7:g.33096499T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096499T>G , CM000669.2:g.33096499T>G	GRCh38
NC_000007.13:g.33136111T>G , CM000669.1:g.33136111T>G	GRCh37
NC_000007.12:g.33102636T>G	NCBI36
NG_012968.1:g.17892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2434A>C
ENST00000492391.2:n.1585A>C
ENST00000682645.1:n.3532A>C
ENST00000683432.1:c.*636A>C	ENSP00000508174.1:n.*636A>C
ENST00000684207.1:c.461A>C	ENSP00000506942.1:p.Asp154Ala
ENST00000297157.8:c.461A>C MANE Select	ENSP00000297157.3:p.Asp154Ala
ENST00000297157.7:c.461A>C	ENSP00000297157.3:p.Asp154Ala
ENST00000448915.1:c.359A>C	ENSP00000411577.1:p.Asp120Ala
NM_203288.1:c.461A>C	NP_976033.1:p.Asp154Ala
XM_011515468.1:c.359A>C	XP_011513770.1:p.Asp120Ala
XM_011515468.3:c.359A>C	XP_011513770.1:p.Asp120Ala
NM_203288.2:c.461A>C MANE Select	NP_976033.1:p.Asp154Ala