Canonical Allele Identifier: CA1053436477
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2108750401
gnomAD v3: 3-129532432-T-G
gnomAD v4: 3-129532432-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532432T>G , CM000665.2:g.129532432T>G GRCh38
NC_000003.11:g.129251275T>G , CM000665.1:g.129251275T>G GRCh37
NC_000003.10:g.130733965T>G NCBI36
NG_009115.1:g.8794T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.696+16T>G MANE Select ENSP00000296271.3:n.696+16T>G
ENST00000296271.3:c.696+16T>G ENSP00000296271.3:n.696+16T>G
NM_000539.3:c.696+16T>G MANE Select NP_000530.1:n.696+16T>G
Search 100 bp 5'
Search 100 bp 3'