Canonical Allele Identifier: CA367181562

Gene: RP9

Linked Data

• dbSNP Id: rs1313523696
• MyVariant Identifiers: chr7:g.33136155A>C (hg19) ; chr7:g.33096543A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096543A>C , CM000669.2:g.33096543A>C	GRCh38
NC_000007.13:g.33136155A>C , CM000669.1:g.33136155A>C	GRCh37
NC_000007.12:g.33102680A>C	NCBI36
NG_012968.1:g.17848T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2390T>G
ENST00000492391.2:n.1541T>G
ENST00000682645.1:n.3488T>G
ENST00000683432.1:c.*592T>G	ENSP00000508174.1:n.*592T>G
ENST00000684207.1:c.417T>G	ENSP00000506942.1:p.Asp139Glu
ENST00000297157.8:c.417T>G MANE Select	ENSP00000297157.3:p.Asp139Glu
ENST00000297157.7:c.417T>G	ENSP00000297157.3:p.Asp139Glu
ENST00000448915.1:c.315T>G	ENSP00000411577.1:p.Asp105Glu
NM_203288.1:c.417T>G	NP_976033.1:p.Asp139Glu
XM_011515468.1:c.315T>G	XP_011513770.1:p.Asp105Glu
XM_011515468.3:c.315T>G	XP_011513770.1:p.Asp105Glu
NM_203288.2:c.417T>G MANE Select	NP_976033.1:p.Asp139Glu