Canonical Allele Identifier: CA180404
Gene: RP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 167611
ClinVar RCV Id: RCV000153856 RCV001162974 RCV002056042
dbSNP Id: rs145025032
ExAC: 7:33136113 C / T
gnomAD v2: 7-33136113-C-T
gnomAD v3: 7-33096501-C-T
gnomAD v4: 7-33096501-C-T
MyVariant Identifiers: chr7:g.33136113C>T (hg19) chr7:g.33096501C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096501C>T , CM000669.2:g.33096501C>T GRCh38
NC_000007.13:g.33136113C>T , CM000669.1:g.33136113C>T GRCh37
NC_000007.12:g.33102638C>T NCBI36
NG_012968.1:g.17890G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2432G>A
ENST00000492391.2:n.1583G>A
ENST00000682645.1:n.3530G>A
ENST00000683432.1:c.*634G>A ENSP00000508174.1:n.*634G>A
ENST00000684207.1:c.459G>A ENSP00000506942.1:p.Lys153=
ENST00000297157.8:c.459G>A MANE Select ENSP00000297157.3:p.Lys153=
ENST00000297157.7:c.459G>A ENSP00000297157.3:p.Lys153=
ENST00000448915.1:c.357G>A ENSP00000411577.1:p.Lys119=
NM_203288.1:c.459G>A NP_976033.1:p.Lys153=
XM_011515468.1:c.357G>A XP_011513770.1:p.Lys119=
XM_011515468.3:c.357G>A XP_011513770.1:p.Lys119=
NM_203288.2:c.459G>A MANE Select NP_976033.1:p.Lys153=
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