Canonical Allele Identifier: CA354497896

Gene: RHO

Linked Data

• dbSNP Id: rs1399039412
• gnomAD v2: 3-129249731-T-C
• gnomAD v4: 3-129530888-T-C
• MyVariant Identifiers: chr3:g.129249731T>C (hg19) ; chr3:g.129530888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129530888T>C , CM000665.2:g.129530888T>C	GRCh38
NC_000003.11:g.129249731T>C , CM000665.1:g.129249731T>C	GRCh37
NC_000003.10:g.130732421T>C	NCBI36
NG_009115.1:g.7250T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296271.4:c.374T>C MANE Select	ENSP00000296271.3:p.Leu125Pro
ENST00000296271.3:c.374T>C	ENSP00000296271.3:p.Leu125Pro
NM_000539.3:c.374T>C MANE Select	NP_000530.1:p.Leu125Pro