Canonical Allele Identifier: CA354499102
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 865884
ClinVar RCV Id: RCV001073442 RCV001207469
dbSNP Id: rs1560046837
MyVariant Identifiers: chr3:g.129251101C>G (hg19) chr3:g.129532258C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532258C>G , CM000665.2:g.129532258C>G GRCh38
NC_000003.11:g.129251101C>G , CM000665.1:g.129251101C>G GRCh37
NC_000003.10:g.130733791C>G NCBI36
NG_009115.1:g.8620C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.538C>G MANE Select ENSP00000296271.3:p.Pro180Ala
ENST00000296271.3:c.538C>G ENSP00000296271.3:p.Pro180Ala
NM_000539.3:c.538C>G MANE Select NP_000530.1:p.Pro180Ala
Search 100 bp 5'
Search 100 bp 3'