Canonical Allele Identifier: CA367181506

Gene: RP9

Linked Data

• gnomAD v4: 7-33096534-A-T
• MyVariant Identifiers: chr7:g.33136146A>T (hg19) ; chr7:g.33096534A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096534A>T , CM000669.2:g.33096534A>T	GRCh38
NC_000007.13:g.33136146A>T , CM000669.1:g.33136146A>T	GRCh37
NC_000007.12:g.33102671A>T	NCBI36
NG_012968.1:g.17857T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2399T>A
ENST00000492391.2:n.1550T>A
ENST00000682645.1:n.3497T>A
ENST00000683432.1:c.*601T>A	ENSP00000508174.1:n.*601T>A
ENST00000684207.1:c.426T>A	ENSP00000506942.1:p.Tyr142Ter
ENST00000297157.8:c.426T>A MANE Select	ENSP00000297157.3:p.Tyr142Ter
ENST00000297157.7:c.426T>A	ENSP00000297157.3:p.Tyr142Ter
ENST00000448915.1:c.324T>A	ENSP00000411577.1:p.Tyr108Ter
NM_203288.1:c.426T>A	NP_976033.1:p.Tyr142Ter
XM_011515468.1:c.324T>A	XP_011513770.1:p.Tyr108Ter
XM_011515468.3:c.324T>A	XP_011513770.1:p.Tyr108Ter
NM_203288.2:c.426T>A MANE Select	NP_976033.1:p.Tyr142Ter