Canonical Allele Identifier: CA367181499

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136145C>G (hg19) ; chr7:g.33096533C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096533C>G , CM000669.2:g.33096533C>G	GRCh38
NC_000007.13:g.33136145C>G , CM000669.1:g.33136145C>G	GRCh37
NC_000007.12:g.33102670C>G	NCBI36
NG_012968.1:g.17858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2400G>C
ENST00000492391.2:n.1551G>C
ENST00000682645.1:n.3498G>C
ENST00000683432.1:c.*602G>C	ENSP00000508174.1:n.*602G>C
ENST00000684207.1:c.427G>C	ENSP00000506942.1:p.Asp143His
ENST00000297157.8:c.427G>C MANE Select	ENSP00000297157.3:p.Asp143His
ENST00000297157.7:c.427G>C	ENSP00000297157.3:p.Asp143His
ENST00000448915.1:c.325G>C	ENSP00000411577.1:p.Asp109His
NM_203288.1:c.427G>C	NP_976033.1:p.Asp143His
XM_011515468.1:c.325G>C	XP_011513770.1:p.Asp109His
XM_011515468.3:c.325G>C	XP_011513770.1:p.Asp109His
NM_203288.2:c.427G>C MANE Select	NP_976033.1:p.Asp143His