Canonical Allele Identifier: CA2607255
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs764590515
ExAC: 3:129251273 G / T
gnomAD v2: 3-129251273-G-T
gnomAD v3: 3-129532430-G-T
gnomAD v4: 3-129532430-G-T
MyVariant Identifiers: chr3:g.129251273G>T (hg19) chr3:g.129532430G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532430G>T , CM000665.2:g.129532430G>T GRCh38
NC_000003.11:g.129251273G>T , CM000665.1:g.129251273G>T GRCh37
NC_000003.10:g.130733963G>T NCBI36
NG_009115.1:g.8792G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.696+14G>T MANE Select ENSP00000296271.3:n.696+14G>T
ENST00000296271.3:c.696+14G>T ENSP00000296271.3:n.696+14G>T
NM_000539.3:c.696+14G>T MANE Select NP_000530.1:n.696+14G>T
Search 100 bp 5'
Search 100 bp 3'