Canonical Allele Identifier: CA4213725

Gene: RP9

Linked Data

• dbSNP Id: rs776995338
• ExAC: 7:33136184 G / A
• gnomAD v3: 7-33096572-G-A
• gnomAD v4: 7-33096572-G-A
• MyVariant Identifiers: chr7:g.33136184G>A (hg19) ; chr7:g.33096572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096572G>A , CM000669.2:g.33096572G>A	GRCh38
NC_000007.13:g.33136184G>A , CM000669.1:g.33136184G>A	GRCh37
NC_000007.12:g.33102709G>A	NCBI36
NG_012968.1:g.17819C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000474370.2:n.2379-18C>T
ENST00000492391.2:n.1530-18C>T
ENST00000682645.1:n.3477-18C>T
ENST00000683432.1:c.*581-18C>T	ENSP00000508174.1:n.*581-18C>T
ENST00000684207.1:c.406-18C>T	ENSP00000506942.1:n.406-18C>T
ENST00000297157.8:c.406-18C>T MANE Select	ENSP00000297157.3:n.406-18C>T
ENST00000297157.7:c.406-18C>T	ENSP00000297157.3:n.406-18C>T
ENST00000448915.1:c.304-18C>T	ENSP00000411577.1:n.304-18C>T
NM_203288.1:c.406-18C>T	NP_976033.1:n.406-18C>T
XM_011515468.1:c.304-18C>T	XP_011513770.1:n.304-18C>T
XM_011515468.3:c.304-18C>T	XP_011513770.1:n.304-18C>T
NM_203288.2:c.406-18C>T MANE Select	NP_976033.1:n.406-18C>T