Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: CA738208221

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1438780113

gnomAD v3: 1-68429646-T-G

gnomAD v4: 1-68429646-T-G

MyVariant Identifiers: chr1:g.68895329T>G (hg19) chr1:g.68429646T>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429646T>G , CM000663.2:g.68429646T>G	GRCh38
NC_000001.10:g.68895329T>G , CM000663.1:g.68895329T>G	GRCh37
NC_000001.9:g.68667917T>G	NCBI36
NG_008472.1:g.25314A>C
NG_008472.2:g.25314A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.*130A>C MANE Select	ENSP00000262340.5:n.*130A>C
ENST00000262340.5:c.*130A>C	ENSP00000262340.5:n.*130A>C
NM_000329.2:c.*130A>C	NP_000320.1:n.*130A>C
XM_017002027.1:c.*130A>C	XP_016857516.1:n.*130A>C
NM_000329.3:c.*130A>C MANE Select	NP_000320.1:n.*130A>C

Search 100 bp 5'

Search 100 bp 3'