Canonical Allele Identifier: CA902281

Gene: RPE65

Linked Data

• dbSNP Id: rs778231195
• ExAC: 1:68903821 G / C
• gnomAD v2: 1-68903821-G-C
• gnomAD v3: 1-68438138-G-C
• gnomAD v4: 1-68438138-G-C
• MyVariant Identifiers: chr1:g.68903821G>C (hg19) ; chr1:g.68438138G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438138G>C , CM000663.2:g.68438138G>C	GRCh38
NC_000001.10:g.68903821G>C , CM000663.1:g.68903821G>C	GRCh37
NC_000001.9:g.68676409G>C	NCBI36
NG_008472.1:g.16822C>G
NG_008472.2:g.16822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1128+49C>G MANE Select	ENSP00000262340.5:n.1128+49C>G
ENST00000262340.5:c.1128+49C>G	ENSP00000262340.5:n.1128+49C>G
NM_000329.2:c.1128+49C>G	NP_000320.1:n.1128+49C>G
XM_017002027.1:c.852+49C>G	XP_016857516.1:n.852+49C>G
NM_000329.3:c.1128+49C>G MANE Select	NP_000320.1:n.1128+49C>G