Canonical Allele Identifier: CA354470294
Gene: RHO HGNC NCBI

Linked Data

gnomAD v4: 3-129532591-G-T
MyVariant Identifiers: chr3:g.129251434G>T (hg19) chr3:g.129532591G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532591G>T , CM000665.2:g.129532591G>T GRCh38
NC_000003.11:g.129251434G>T , CM000665.1:g.129251434G>T GRCh37
NC_000003.10:g.130734124G>T NCBI36
NG_009115.1:g.8953G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.755G>T MANE Select ENSP00000296271.3:p.Arg252Leu
ENST00000296271.3:c.755G>T ENSP00000296271.3:p.Arg252Leu
NM_000539.3:c.755G>T MANE Select NP_000530.1:p.Arg252Leu
Search 100 bp 5'
Search 100 bp 3'