Canonical Allele Identifier: CA354495040
Gene: RHO HGNC NCBI

Linked Data

dbSNP Id: rs2084755497
gnomAD v3: 3-129528738-A-G
gnomAD v4: 3-129528738-A-G
MyVariant Identifiers: chr3:g.129247581A>G (hg19) chr3:g.129528738A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129528738A>G , CM000665.2:g.129528738A>G GRCh38
NC_000003.11:g.129247581A>G , CM000665.1:g.129247581A>G GRCh37
NC_000003.10:g.130730271A>G NCBI36
NG_009115.1:g.5100A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000296271.4:c.5A>G MANE Select ENSP00000296271.3:p.Asn2Ser
ENST00000296271.3:c.5A>G ENSP00000296271.3:p.Asn2Ser
NM_000539.3:c.5A>G MANE Select NP_000530.1:p.Asn2Ser
Search 100 bp 5'
Search 100 bp 3'