Canonical Allele Identifier: CA354496419
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1248203737
gnomAD v2: 3-129247808-A-C
gnomAD v4: 3-129528965-A-C
MyVariant Identifiers: chr3:g.129247808A>C (hg19) chr3:g.129528965A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528965A>C , CM000665.2:g.129528965A>C GRCh38
NC_000003.11:g.129247808A>C , CM000665.1:g.129247808A>C GRCh37
NC_000003.10:g.130730498A>C NCBI36
NG_009115.1:g.5327A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.232A>C MANE Select ENSP00000296271.3:p.Asn78His
ENST00000296271.3:c.232A>C ENSP00000296271.3:p.Asn78His
NM_000539.3:c.232A>C MANE Select NP_000530.1:p.Asn78His
Search 100 bp 5'
Search 100 bp 3'