Canonical Allele Identifier: CA1100004568

Gene: RP9

Linked Data

• dbSNP Id: rs1788342576
• gnomAD v3: 7-33096808-C-G
• gnomAD v4: 7-33096808-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096808C>G , CM000669.2:g.33096808C>G	GRCh38
NC_000007.13:g.33136420C>G , CM000669.1:g.33136420C>G	GRCh37
NC_000007.12:g.33102945C>G	NCBI36
NG_012968.1:g.17583G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-254G>C
ENST00000492391.2:n.1530-254G>C
ENST00000682645.1:n.3477-254G>C
ENST00000683432.1:c.*581-254G>C	ENSP00000508174.1:n.*581-254G>C
ENST00000684207.1:c.406-254G>C	ENSP00000506942.1:n.406-254G>C
ENST00000297157.8:c.406-254G>C MANE Select	ENSP00000297157.3:n.406-254G>C
ENST00000297157.7:c.406-254G>C	ENSP00000297157.3:n.406-254G>C
ENST00000448915.1:c.304-254G>C	ENSP00000411577.1:n.304-254G>C
NM_203288.1:c.406-254G>C	NP_976033.1:n.406-254G>C
XM_011515468.1:c.304-254G>C	XP_011513770.1:n.304-254G>C
XM_011515468.3:c.304-254G>C	XP_011513770.1:n.304-254G>C
NM_203288.2:c.406-254G>C MANE Select	NP_976033.1:n.406-254G>C