Canonical Allele Identifier: CA1698611580
Gene: RP9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096519G= , CM000669.2:g.33096519G= GRCh38
NC_000007.13:g.33136131G= , CM000669.1:g.33136131G= GRCh37
NC_000007.12:g.33102656G= NCBI36
NG_012968.1:g.17872C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2414C=
ENST00000492391.2:n.1565C=
ENST00000682645.1:n.3512C=
ENST00000683432.1:c.*616C= ENSP00000508174.1:n.*616C=
ENST00000684207.1:c.441C= ENSP00000506942.1:p.Asp147=
ENST00000297157.8:c.441C= MANE Select ENSP00000297157.3:p.Asp147=
ENST00000297157.7:c.441C= ENSP00000297157.3:p.Asp147=
ENST00000448915.1:c.339C= ENSP00000411577.1:p.Asp113=
NM_203288.1:c.441C= NP_976033.1:p.Asp147=
XM_011515468.1:c.339C= XP_011513770.1:p.Asp113=
XM_011515468.3:c.339C= XP_011513770.1:p.Asp113=
NM_203288.2:c.441C= MANE Select NP_976033.1:p.Asp147=