Canonical Allele Identifier: CA354498322

Gene: RHO

Linked Data

• dbSNP Id: rs1420195862
• gnomAD v2: 3-129249811-C-T
• gnomAD v4: 3-129530968-C-T
• MyVariant Identifiers: chr3:g.129249811C>T (hg19) ; chr3:g.129530968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530968C>T , CM000665.2:g.129530968C>T	GRCh38
NC_000003.11:g.129249811C>T , CM000665.1:g.129249811C>T	GRCh37
NC_000003.10:g.130732501C>T	NCBI36
NG_009115.1:g.7330C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.454C>T MANE Select	ENSP00000296271.3:p.His152Tyr
ENST00000296271.3:c.454C>T	ENSP00000296271.3:p.His152Tyr
NM_000539.3:c.454C>T MANE Select	NP_000530.1:p.His152Tyr