Canonical Allele Identifier: CA82647212

Gene: RHO

Linked Data

• dbSNP Id: rs148110888
• gnomAD v2: 3-129248053-A-T
• gnomAD v3: 3-129529210-A-T
• gnomAD v4: 3-129529210-A-T
• MyVariant Identifiers: chr3:g.129248053A>T (hg19) ; chr3:g.129529210A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129529210A>T , CM000665.2:g.129529210A>T	GRCh38
NC_000003.11:g.129248053A>T , CM000665.1:g.129248053A>T	GRCh37
NC_000003.10:g.130730743A>T	NCBI36
NG_009115.1:g.5572A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.361+116A>T MANE Select	ENSP00000296271.3:n.361+116A>T
ENST00000296271.3:c.361+116A>T	ENSP00000296271.3:n.361+116A>T
NM_000539.3:c.361+116A>T MANE Select	NP_000530.1:n.361+116A>T