Canonical Allele Identifier: CA2607307

Gene: RHO

Linked Data

• dbSNP Id: rs768300463
• ExAC: 3:129251577 A / T
• gnomAD v2: 3-129251577-A-T
• gnomAD v4: 3-129532734-A-T
• MyVariant Identifiers: chr3:g.129251577A>T (hg19) ; chr3:g.129532734A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129532734A>T , CM000665.2:g.129532734A>T	GRCh38
NC_000003.11:g.129251577A>T , CM000665.1:g.129251577A>T	GRCh37
NC_000003.10:g.130734267A>T	NCBI36
NG_009115.1:g.9096A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.898A>T MANE Select	ENSP00000296271.3:p.Ile300Phe
ENST00000296271.3:c.898A>T	ENSP00000296271.3:p.Ile300Phe
NM_000539.3:c.898A>T MANE Select	NP_000530.1:p.Ile300Phe