Canonical Allele Identifier: CA156254068

Gene: RP9

Linked Data

• dbSNP Id: rs962274047
• gnomAD v3: 7-33096519-G-A
• gnomAD v4: 7-33096519-G-A
• MyVariant Identifiers: chr7:g.33136131G>A (hg19) ; chr7:g.33096519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096519G>A , CM000669.2:g.33096519G>A	GRCh38
NC_000007.13:g.33136131G>A , CM000669.1:g.33136131G>A	GRCh37
NC_000007.12:g.33102656G>A	NCBI36
NG_012968.1:g.17872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2414C>T
ENST00000492391.2:n.1565C>T
ENST00000682645.1:n.3512C>T
ENST00000683432.1:c.*616C>T	ENSP00000508174.1:n.*616C>T
ENST00000684207.1:c.441C>T	ENSP00000506942.1:p.Asp147=
ENST00000297157.8:c.441C>T MANE Select	ENSP00000297157.3:p.Asp147=
ENST00000297157.7:c.441C>T	ENSP00000297157.3:p.Asp147=
ENST00000448915.1:c.339C>T	ENSP00000411577.1:p.Asp113=
NM_203288.1:c.441C>T	NP_976033.1:p.Asp147=
XM_011515468.1:c.339C>T	XP_011513770.1:p.Asp113=
XM_011515468.3:c.339C>T	XP_011513770.1:p.Asp113=
NM_203288.2:c.441C>T MANE Select	NP_976033.1:p.Asp147=