Canonical Allele Identifier: CA2682311884

Gene: RP9

Linked Data

• ClinVar Variation Id: 2974691
• ClinVar RCV Id: RCV003838313
• gnomAD v4: 7-33096571-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096571G>A , CM000669.2:g.33096571G>A	GRCh38
NC_000007.13:g.33136183G>A , CM000669.1:g.33136183G>A	GRCh37
NC_000007.12:g.33102708G>A	NCBI36
NG_012968.1:g.17820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-17C>T
ENST00000492391.2:n.1530-17C>T
ENST00000682645.1:n.3477-17C>T
ENST00000683432.1:c.*581-17C>T	ENSP00000508174.1:n.*581-17C>T
ENST00000684207.1:c.406-17C>T	ENSP00000506942.1:n.406-17C>T
ENST00000297157.8:c.406-17C>T MANE Select	ENSP00000297157.3:n.406-17C>T
ENST00000297157.7:c.406-17C>T	ENSP00000297157.3:n.406-17C>T
ENST00000448915.1:c.304-17C>T	ENSP00000411577.1:n.304-17C>T
NM_203288.1:c.406-17C>T	NP_976033.1:n.406-17C>T
XM_011515468.1:c.304-17C>T	XP_011513770.1:n.304-17C>T
XM_011515468.3:c.304-17C>T	XP_011513770.1:n.304-17C>T
NM_203288.2:c.406-17C>T MANE Select	NP_976033.1:n.406-17C>T