Canonical Allele Identifier: CA435623822
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1422707451
gnomAD v2: 3-129252498-G-C
gnomAD v3: 3-129533655-G-C
gnomAD v4: 3-129533655-G-C
MyVariant Identifiers: chr3:g.129252498G>C (hg19) chr3:g.129533655G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129533655G>C , CM000665.2:g.129533655G>C GRCh38
NC_000003.11:g.129252498G>C , CM000665.1:g.129252498G>C GRCh37
NC_000003.10:g.130735188G>C NCBI36
NG_009115.1:g.10017G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.984G>C MANE Select ENSP00000296271.3:p.Leu328=
ENST00000296271.3:c.984G>C ENSP00000296271.3:p.Leu328=
NM_000539.3:c.984G>C MANE Select NP_000530.1:p.Leu328=
Search 100 bp 5'
Search 100 bp 3'