Canonical Allele Identifier: CA2682311865
Gene: RP9 HGNC NCBI

Linked Data

gnomAD v4: 7-33096471-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.33096471G>T , CM000669.2:g.33096471G>T GRCh38
NC_000007.13:g.33136083G>T , CM000669.1:g.33136083G>T GRCh37
NC_000007.12:g.33102608G>T NCBI36
NG_012968.1:g.17920C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000474370.2:n.2440+22C>A
ENST00000492391.2:n.1591+22C>A
ENST00000682645.1:n.3538+22C>A
ENST00000683432.1:c.*642+22C>A ENSP00000508174.1:n.*642+22C>A
ENST00000684207.1:c.*18C>A ENSP00000506942.1:n.*18C>A
ENST00000297157.8:c.467+22C>A MANE Select ENSP00000297157.3:n.467+22C>A
ENST00000297157.7:c.467+22C>A ENSP00000297157.3:n.467+22C>A
ENST00000448915.1:c.365+22C>A ENSP00000411577.1:n.365+22C>A
NM_203288.1:c.467+22C>A NP_976033.1:n.467+22C>A
XM_011515468.1:c.365+22C>A XP_011513770.1:n.365+22C>A
XM_011515468.3:c.365+22C>A XP_011513770.1:n.365+22C>A
NM_203288.2:c.467+22C>A MANE Select NP_976033.1:n.467+22C>A
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