Canonical Allele Identifier: CA367181568
Gene: RP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096544T>G , CM000669.2:g.33096544T>G GRCh38
NC_000007.13:g.33136156T>G , CM000669.1:g.33136156T>G GRCh37
NC_000007.12:g.33102681T>G NCBI36
NG_012968.1:g.17847A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2389A>C
ENST00000492391.2:n.1540A>C
ENST00000682645.1:n.3487A>C
ENST00000683432.1:c.*591A>C ENSP00000508174.1:n.*591A>C
ENST00000684207.1:c.416A>C ENSP00000506942.1:p.Asp139Ala
ENST00000297157.8:c.416A>C MANE Select ENSP00000297157.3:p.Asp139Ala
ENST00000297157.7:c.416A>C ENSP00000297157.3:p.Asp139Ala
ENST00000448915.1:c.314A>C ENSP00000411577.1:p.Asp105Ala
NM_203288.1:c.416A>C NP_976033.1:p.Asp139Ala
XM_011515468.1:c.314A>C XP_011513770.1:p.Asp105Ala
XM_011515468.3:c.314A>C XP_011513770.1:p.Asp105Ala
NM_203288.2:c.416A>C MANE Select NP_976033.1:p.Asp139Ala