Canonical Allele Identifier: CA435768920
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1359176166
gnomAD v2: 3-129251145-C-G
gnomAD v4: 3-129532302-C-G
MyVariant Identifiers: chr3:g.129251145C>G (hg19) chr3:g.129532302C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532302C>G , CM000665.2:g.129532302C>G GRCh38
NC_000003.11:g.129251145C>G , CM000665.1:g.129251145C>G GRCh37
NC_000003.10:g.130733835C>G NCBI36
NG_009115.1:g.8664C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.582C>G MANE Select ENSP00000296271.3:p.Leu194=
ENST00000296271.3:c.582C>G ENSP00000296271.3:p.Leu194=
NM_000539.3:c.582C>G MANE Select NP_000530.1:p.Leu194=
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