Canonical Allele Identifier: CA354495269
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1198077854
gnomAD v2: 3-129247611-C-T
gnomAD v4: 3-129528768-C-T
MyVariant Identifiers: chr3:g.129247611C>T (hg19) chr3:g.129528768C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528768C>T , CM000665.2:g.129528768C>T GRCh38
NC_000003.11:g.129247611C>T , CM000665.1:g.129247611C>T GRCh37
NC_000003.10:g.130730301C>T NCBI36
NG_009115.1:g.5130C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.35C>T MANE Select ENSP00000296271.3:p.Pro12Leu
ENST00000296271.3:c.35C>T ENSP00000296271.3:p.Pro12Leu
NM_000539.3:c.35C>T MANE Select NP_000530.1:p.Pro12Leu
Search 100 bp 5'
Search 100 bp 3'