Canonical Allele Identifier: CA898750756

Gene: RHO

Linked Data

• dbSNP Id: rs1321477975
• gnomAD v3: 3-129529278-G-T
• gnomAD v4: 3-129529278-G-T
• MyVariant Identifiers: chr3:g.129248121G>T (hg19) ; chr3:g.129529278G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529278G>T , CM000665.2:g.129529278G>T	GRCh38
NC_000003.11:g.129248121G>T , CM000665.1:g.129248121G>T	GRCh37
NC_000003.10:g.130730811G>T	NCBI36
NG_009115.1:g.5640G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+184G>T MANE Select	ENSP00000296271.3:n.361+184G>T
ENST00000296271.3:c.361+184G>T	ENSP00000296271.3:n.361+184G>T
NM_000539.3:c.361+184G>T MANE Select	NP_000530.1:n.361+184G>T