Canonical Allele Identifier: CA2607095
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs781325869
ExAC: 3:129247817 G / A
gnomAD v2: 3-129247817-G-A
gnomAD v3: 3-129528974-G-A
gnomAD v4: 3-129528974-G-A
MyVariant Identifiers: chr3:g.129247817G>A (hg19) chr3:g.129528974G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528974G>A , CM000665.2:g.129528974G>A GRCh38
NC_000003.11:g.129247817G>A , CM000665.1:g.129247817G>A GRCh37
NC_000003.10:g.130730507G>A NCBI36
NG_009115.1:g.5336G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.241G>A MANE Select ENSP00000296271.3:p.Val81Met
ENST00000296271.3:c.241G>A ENSP00000296271.3:p.Val81Met
NM_000539.3:c.241G>A MANE Select NP_000530.1:p.Val81Met
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