Canonical Allele Identifier: CA367181511

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136148A>G (hg19) ; chr7:g.33096536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096536A>G , CM000669.2:g.33096536A>G	GRCh38
NC_000007.13:g.33136148A>G , CM000669.1:g.33136148A>G	GRCh37
NC_000007.12:g.33102673A>G	NCBI36
NG_012968.1:g.17855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2397T>C
ENST00000492391.2:n.1548T>C
ENST00000682645.1:n.3495T>C
ENST00000683432.1:c.*599T>C	ENSP00000508174.1:n.*599T>C
ENST00000684207.1:c.424T>C	ENSP00000506942.1:p.Tyr142His
ENST00000297157.8:c.424T>C MANE Select	ENSP00000297157.3:p.Tyr142His
ENST00000297157.7:c.424T>C	ENSP00000297157.3:p.Tyr142His
ENST00000448915.1:c.322T>C	ENSP00000411577.1:p.Tyr108His
NM_203288.1:c.424T>C	NP_976033.1:p.Tyr142His
XM_011515468.1:c.322T>C	XP_011513770.1:p.Tyr108His
XM_011515468.3:c.322T>C	XP_011513770.1:p.Tyr108His
NM_203288.2:c.424T>C MANE Select	NP_976033.1:p.Tyr142His