Canonical Allele Identifier: CA354496210
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129528934-G-C
MyVariant Identifiers: chr3:g.129247777G>C (hg19) chr3:g.129528934G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528934G>C , CM000665.2:g.129528934G>C GRCh38
NC_000003.11:g.129247777G>C , CM000665.1:g.129247777G>C GRCh37
NC_000003.10:g.130730467G>C NCBI36
NG_009115.1:g.5296G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.201G>C MANE Select ENSP00000296271.3:p.Lys67Asn
ENST00000296271.3:c.201G>C ENSP00000296271.3:p.Lys67Asn
NM_000539.3:c.201G>C MANE Select NP_000530.1:p.Lys67Asn
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