Canonical Allele Identifier: CA1401206554
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084760268
gnomAD v4: 3-129529216-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529216T>C , CM000665.2:g.129529216T>C GRCh38
NC_000003.11:g.129248059T>C , CM000665.1:g.129248059T>C GRCh37
NC_000003.10:g.130730749T>C NCBI36
NG_009115.1:g.5578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.361+122T>C MANE Select ENSP00000296271.3:n.361+122T>C
ENST00000296271.3:c.361+122T>C ENSP00000296271.3:n.361+122T>C
NM_000539.3:c.361+122T>C MANE Select NP_000530.1:n.361+122T>C
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