Canonical Allele Identifier: CA4213728

Gene: RP9

Linked Data

• dbSNP Id: rs201057021
• ExAC: 7:33136201 C / T
• gnomAD v2: 7-33136201-C-T
• gnomAD v3: 7-33096589-C-T
• gnomAD v4: 7-33096589-C-T
• MyVariant Identifiers: chr7:g.33136201C>T (hg19) ; chr7:g.33096589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096589C>T , CM000669.2:g.33096589C>T	GRCh38
NC_000007.13:g.33136201C>T , CM000669.1:g.33136201C>T	GRCh37
NC_000007.12:g.33102726C>T	NCBI36
NG_012968.1:g.17802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379-35G>A
ENST00000492391.2:n.1530-35G>A
ENST00000682645.1:n.3477-35G>A
ENST00000683432.1:c.*581-35G>A	ENSP00000508174.1:n.*581-35G>A
ENST00000684207.1:c.406-35G>A	ENSP00000506942.1:n.406-35G>A
ENST00000297157.8:c.406-35G>A MANE Select	ENSP00000297157.3:n.406-35G>A
ENST00000297157.7:c.406-35G>A	ENSP00000297157.3:n.406-35G>A
ENST00000448915.1:c.304-35G>A	ENSP00000411577.1:n.304-35G>A
NM_203288.1:c.406-35G>A	NP_976033.1:n.406-35G>A
XM_011515468.1:c.304-35G>A	XP_011513770.1:n.304-35G>A
XM_011515468.3:c.304-35G>A	XP_011513770.1:n.304-35G>A
NM_203288.2:c.406-35G>A MANE Select	NP_976033.1:n.406-35G>A