Canonical Allele Identifier: CA1698611585
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096528G= , CM000669.2:g.33096528G= GRCh38
NC_000007.13:g.33136140G= , CM000669.1:g.33136140G= GRCh37
NC_000007.12:g.33102665G= NCBI36
NG_012968.1:g.17863C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2405C=
ENST00000492391.2:n.1556C=
ENST00000682645.1:n.3503C=
ENST00000683432.1:c.*607C= ENSP00000508174.1:n.*607C=
ENST00000684207.1:c.432C= ENSP00000506942.1:p.Ile144=
ENST00000297157.8:c.432C= MANE Select ENSP00000297157.3:p.Ile144=
ENST00000297157.7:c.432C= ENSP00000297157.3:p.Ile144=
ENST00000448915.1:c.330C= ENSP00000411577.1:p.Ile110=
NM_203288.1:c.432C= NP_976033.1:p.Ile144=
XM_011515468.1:c.330C= XP_011513770.1:p.Ile110=
XM_011515468.3:c.330C= XP_011513770.1:p.Ile110=
NM_203288.2:c.432C= MANE Select NP_976033.1:p.Ile144=