Canonical Allele Identifier: CA367181570

Gene: RP9

Linked Data

• dbSNP Id: rs1460498942
• gnomAD v2: 7-33136157-C-A
• MyVariant Identifiers: chr7:g.33136157C>A (hg19) ; chr7:g.33096545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096545C>A , CM000669.2:g.33096545C>A	GRCh38
NC_000007.13:g.33136157C>A , CM000669.1:g.33136157C>A	GRCh37
NC_000007.12:g.33102682C>A	NCBI36
NG_012968.1:g.17846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2388G>T
ENST00000492391.2:n.1539G>T
ENST00000682645.1:n.3486G>T
ENST00000683432.1:c.*590G>T	ENSP00000508174.1:n.*590G>T
ENST00000684207.1:c.415G>T	ENSP00000506942.1:p.Asp139Tyr
ENST00000297157.8:c.415G>T MANE Select	ENSP00000297157.3:p.Asp139Tyr
ENST00000297157.7:c.415G>T	ENSP00000297157.3:p.Asp139Tyr
ENST00000448915.1:c.313G>T	ENSP00000411577.1:p.Asp105Tyr
NM_203288.1:c.415G>T	NP_976033.1:p.Asp139Tyr
XM_011515468.1:c.313G>T	XP_011513770.1:p.Asp105Tyr
XM_011515468.3:c.313G>T	XP_011513770.1:p.Asp105Tyr
NM_203288.2:c.415G>T MANE Select	NP_976033.1:p.Asp139Tyr