Canonical Allele Identifier: CA435643873
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 1150651
ClinVar RCV Id: RCV001491294
dbSNP Id: rs2108749946
MyVariant Identifiers: chr3:g.129249783C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530940C>T , CM000665.2:g.129530940C>T GRCh38
NC_000003.11:g.129249783C>T , CM000665.1:g.129249783C>T GRCh37
NC_000003.10:g.130732473C>T NCBI36
NG_009115.1:g.7302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.426C>T MANE Select ENSP00000296271.3:p.Pro142=
ENST00000296271.3:c.426C>T ENSP00000296271.3:p.Pro142=
NM_000539.3:c.426C>T MANE Select NP_000530.1:p.Pro142=
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Search 100 bp 3'