Canonical Allele Identifier: CA2607027
Gene: RHO HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.129528683G>A
GRCh37 chr3:g.129247526G>A
gnomAD v2:
3:129247526 G / A
gnomAD v3:
3:129528683 G / A
gnomAD v4:
chr3-129528683-G-A
Joint Max Group AF 0.35752081 (EAS)
Genomes Max Group AF 0.38761137 (EAS)
Exomes Max Group AF 0.35207119 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528683G>A , CM000665.2:g.129528683G>A GRCh38
NC_000003.11:g.129247526G>A , CM000665.1:g.129247526G>A GRCh37
NC_000003.10:g.130730216G>A NCBI36
NG_009115.1:g.5045G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.-51G>A MANE Select ENSP00000296271.3:n.-51G>A
ENST00000296271.3:c.-51G>A ENSP00000296271.3:n.-51G>A
NM_000539.3:c.-51G>A MANE Select NP_000530.1:n.-51G>A
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