Canonical Allele Identifier: CA2607271
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs547981493
ExAC: 3:129251379 G / T
gnomAD v2: 3-129251379-G-T
gnomAD v3: 3-129532536-G-T
gnomAD v4: 3-129532536-G-T
MyVariant Identifiers: chr3:g.129251379G>T (hg19) chr3:g.129532536G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532536G>T , CM000665.2:g.129532536G>T GRCh38
NC_000003.11:g.129251379G>T , CM000665.1:g.129251379G>T GRCh37
NC_000003.10:g.130734069G>T NCBI36
NG_009115.1:g.8898G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.700G>T MANE Select ENSP00000296271.3:p.Ala234Ser
ENST00000296271.3:c.700G>T ENSP00000296271.3:p.Ala234Ser
NM_000539.3:c.700G>T MANE Select NP_000530.1:p.Ala234Ser
Search 100 bp 5'
Search 100 bp 3'