Canonical Allele Identifier: CA354470074
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs1286665566
gnomAD v2: 3-129251243-T-G
gnomAD v4: 3-129532400-T-G
MyVariant Identifiers: chr3:g.129251243T>G (hg19) chr3:g.129532400T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129532400T>G , CM000665.2:g.129532400T>G GRCh38
NC_000003.11:g.129251243T>G , CM000665.1:g.129251243T>G GRCh37
NC_000003.10:g.130733933T>G NCBI36
NG_009115.1:g.8762T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.680T>G MANE Select ENSP00000296271.3:p.Val227Gly
ENST00000296271.3:c.680T>G ENSP00000296271.3:p.Val227Gly
NM_000539.3:c.680T>G MANE Select NP_000530.1:p.Val227Gly
Search 100 bp 5'
Search 100 bp 3'