Canonical Allele Identifier: CA354469726
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1402455011
MyVariant Identifiers: chr3:g.129251148G>T (hg19) chr3:g.129532305G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532305G>T , CM000665.2:g.129532305G>T GRCh38
NC_000003.11:g.129251148G>T , CM000665.1:g.129251148G>T GRCh37
NC_000003.10:g.130733838G>T NCBI36
NG_009115.1:g.8667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.585G>T MANE Select ENSP00000296271.3:p.Lys195Asn
ENST00000296271.3:c.585G>T ENSP00000296271.3:p.Lys195Asn
NM_000539.3:c.585G>T MANE Select NP_000530.1:p.Lys195Asn
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