Canonical Allele Identifier: CA1698611590
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096543A= , CM000669.2:g.33096543A= GRCh38
NC_000007.13:g.33136155A= , CM000669.1:g.33136155A= GRCh37
NC_000007.12:g.33102680A= NCBI36
NG_012968.1:g.17848T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2390T=
ENST00000492391.2:n.1541T=
ENST00000682645.1:n.3488T=
ENST00000683432.1:c.*592T= ENSP00000508174.1:n.*592T=
ENST00000684207.1:c.417T= ENSP00000506942.1:p.Asp139=
ENST00000297157.8:c.417T= MANE Select ENSP00000297157.3:p.Asp139=
ENST00000297157.7:c.417T= ENSP00000297157.3:p.Asp139=
ENST00000448915.1:c.315T= ENSP00000411577.1:p.Asp105=
NM_203288.1:c.417T= NP_976033.1:p.Asp139=
XM_011515468.1:c.315T= XP_011513770.1:p.Asp105=
XM_011515468.3:c.315T= XP_011513770.1:p.Asp105=
NM_203288.2:c.417T= MANE Select NP_976033.1:p.Asp139=