Canonical Allele Identifier: CA354496516
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1326147175
gnomAD v2: 3-129247824-A-G
gnomAD v4: 3-129528981-A-G
MyVariant Identifiers: chr3:g.129247824A>G (hg19) chr3:g.129528981A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528981A>G , CM000665.2:g.129528981A>G GRCh38
NC_000003.11:g.129247824A>G , CM000665.1:g.129247824A>G GRCh37
NC_000003.10:g.130730514A>G NCBI36
NG_009115.1:g.5343A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.248A>G MANE Select ENSP00000296271.3:p.Asp83Gly
ENST00000296271.3:c.248A>G ENSP00000296271.3:p.Asp83Gly
NM_000539.3:c.248A>G MANE Select NP_000530.1:p.Asp83Gly
Search 100 bp 5'
Search 100 bp 3'