Canonical Allele Identifier: CA367181447

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136141A>T (hg19) ; chr7:g.33096529A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096529A>T , CM000669.2:g.33096529A>T	GRCh38
NC_000007.13:g.33136141A>T , CM000669.1:g.33136141A>T	GRCh37
NC_000007.12:g.33102666A>T	NCBI36
NG_012968.1:g.17862T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2404T>A
ENST00000492391.2:n.1555T>A
ENST00000682645.1:n.3502T>A
ENST00000683432.1:c.*606T>A	ENSP00000508174.1:n.*606T>A
ENST00000684207.1:c.431T>A	ENSP00000506942.1:p.Ile144Asn
ENST00000297157.8:c.431T>A MANE Select	ENSP00000297157.3:p.Ile144Asn
ENST00000297157.7:c.431T>A	ENSP00000297157.3:p.Ile144Asn
ENST00000448915.1:c.329T>A	ENSP00000411577.1:p.Ile110Asn
NM_203288.1:c.431T>A	NP_976033.1:p.Ile144Asn
XM_011515468.1:c.329T>A	XP_011513770.1:p.Ile110Asn
XM_011515468.3:c.329T>A	XP_011513770.1:p.Ile110Asn
NM_203288.2:c.431T>A MANE Select	NP_976033.1:p.Ile144Asn