Canonical Allele Identifier: CA2607073
Gene: RHO HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.129528906C>T
GRCh37 chr3:g.129247749C>T
Revel Score:
ENST00000296271 (MANE Select) 0.740
gnomAD v2:
3:129247749 C / T
gnomAD v3:
3:129528906 C / T
gnomAD v4:
chr3-129528906-C-T
Joint Max Group AF 0.00021034 (NFE)
Genomes Max Group AF 0.00011223 (NFE)
Exomes Max Group AF 0.00021163 (NFE)
ClinVar RCV:
RCV001242415
RCV001265174
ClinVar Variation:
967490
dbSNP:
28933394
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528906C>T , CM000665.2:g.129528906C>T GRCh38
NC_000003.11:g.129247749C>T , CM000665.1:g.129247749C>T GRCh37
NC_000003.10:g.130730439C>T NCBI36
NG_009115.1:g.5268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.173C>T MANE Select ENSP00000296271.3:p.Thr58Met
ENST00000296271.3:c.173C>T ENSP00000296271.3:p.Thr58Met
NM_000539.3:c.173C>T MANE Select NP_000530.1:p.Thr58Met
Search 100 bp 5'
Search 100 bp 3'