Canonical Allele Identifier: CA82647260

Gene: RHO

Linked Data

• dbSNP Id: rs141844397
• gnomAD v2: 3-129248136-T-G
• gnomAD v3: 3-129529293-T-G
• gnomAD v4: 3-129529293-T-G
• MyVariant Identifiers: chr3:g.129248136T>G (hg19) ; chr3:g.129529293T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529293T>G , CM000665.2:g.129529293T>G	GRCh38
NC_000003.11:g.129248136T>G , CM000665.1:g.129248136T>G	GRCh37
NC_000003.10:g.130730826T>G	NCBI36
NG_009115.1:g.5655T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+199T>G MANE Select	ENSP00000296271.3:n.361+199T>G
ENST00000296271.3:c.361+199T>G	ENSP00000296271.3:n.361+199T>G
NM_000539.3:c.361+199T>G MANE Select	NP_000530.1:n.361+199T>G