Canonical Allele Identifier: CA367181457
Gene: RP9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096531G>C , CM000669.2:g.33096531G>C GRCh38
NC_000007.13:g.33136143G>C , CM000669.1:g.33136143G>C GRCh37
NC_000007.12:g.33102668G>C NCBI36
NG_012968.1:g.17860C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2402C>G
ENST00000492391.2:n.1553C>G
ENST00000682645.1:n.3500C>G
ENST00000683432.1:c.*604C>G ENSP00000508174.1:n.*604C>G
ENST00000684207.1:c.429C>G ENSP00000506942.1:p.Asp143Glu
ENST00000297157.8:c.429C>G MANE Select ENSP00000297157.3:p.Asp143Glu
ENST00000297157.7:c.429C>G ENSP00000297157.3:p.Asp143Glu
ENST00000448915.1:c.327C>G ENSP00000411577.1:p.Asp109Glu
NM_203288.1:c.429C>G NP_976033.1:p.Asp143Glu
XM_011515468.1:c.327C>G XP_011513770.1:p.Asp109Glu
XM_011515468.3:c.327C>G XP_011513770.1:p.Asp109Glu
NM_203288.2:c.429C>G MANE Select NP_976033.1:p.Asp143Glu