Canonical Allele Identifier: CA180402
Gene: RP9 HGNC NCBI

Linked Data

ClinVar Variation Id: 167609
ClinVar RCV Id: RCV000153854 RCV000337887 RCV000948763 RCV000987861
dbSNP Id: rs150987618
ExAC: 7:33134883 T / C
gnomAD v2: 7-33134883-T-C
gnomAD v3: 7-33095271-T-C
gnomAD v4: 7-33095271-T-C
MyVariant Identifiers: chr7:g.33134883T>C (hg19) chr7:g.33095271T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33095271T>C , CM000669.2:g.33095271T>C GRCh38
NC_000007.13:g.33134883T>C , CM000669.1:g.33134883T>C GRCh37
NC_000007.12:g.33101408T>C NCBI36
NG_012968.1:g.19120A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474370.2:n.2602A>G
ENST00000492391.2:n.1753A>G
ENST00000682645.1:n.3700A>G
ENST00000683432.1:c.*804A>G ENSP00000508174.1:n.*804A>G
ENST00000297157.8:c.629A>G MANE Select ENSP00000297157.3:p.Lys210Arg
ENST00000297157.7:c.629A>G ENSP00000297157.3:p.Lys210Arg
NM_203288.1:c.629A>G NP_976033.1:p.Lys210Arg
XM_011515468.1:c.527A>G XP_011513770.1:p.Lys176Arg
XM_011515468.3:c.527A>G XP_011513770.1:p.Lys176Arg
NM_203288.2:c.629A>G MANE Select NP_976033.1:p.Lys210Arg
Search 100 bp 5'
Search 100 bp 3'