Canonical Allele Identifier: CA2607196

Gene: RHO

Linked Data

• dbSNP Id: rs748723598
• ExAC: 3:129249925 C / T
• gnomAD v3: 3-129531082-C-T
• gnomAD v4: 3-129531082-C-T
• MyVariant Identifiers: chr3:g.129249925C>T (hg19) ; chr3:g.129531082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.129531082C>T , CM000665.2:g.129531082C>T	GRCh38
NC_000003.11:g.129249925C>T , CM000665.1:g.129249925C>T	GRCh37
NC_000003.10:g.130732615C>T	NCBI36
NG_009115.1:g.7444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296271.4:c.530+38C>T MANE Select	ENSP00000296271.3:n.530+38C>T
ENST00000296271.3:c.530+38C>T	ENSP00000296271.3:n.530+38C>T
NM_000539.3:c.530+38C>T MANE Select	NP_000530.1:n.530+38C>T