Canonical Allele Identifier: CA82648321
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs568202024
gnomAD v2: 3-129249612-T-C
gnomAD v3: 3-129530769-T-C
gnomAD v4: 3-129530769-T-C
MyVariant Identifiers: chr3:g.129249612T>C (hg19) chr3:g.129530769T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129530769T>C , CM000665.2:g.129530769T>C GRCh38
NC_000003.11:g.129249612T>C , CM000665.1:g.129249612T>C GRCh37
NC_000003.10:g.130732302T>C NCBI36
NG_009115.1:g.7131T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.362-107T>C MANE Select ENSP00000296271.3:n.362-107T>C
ENST00000296271.3:c.362-107T>C ENSP00000296271.3:n.362-107T>C
NM_000539.3:c.362-107T>C MANE Select NP_000530.1:n.362-107T>C
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Search 100 bp 3'