Allele Registry

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Canonical Allele Identifier: CA523298937

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1464150291

gnomAD v2: 1-68895802-C-G

gnomAD v3: 1-68430119-C-G

gnomAD v4: 1-68430119-C-G

MyVariant Identifiers: chr1:g.68895802C>G (hg19) chr1:g.68430119C>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68430119C>G , CM000663.2:g.68430119C>G	GRCh38
NC_000001.10:g.68895802C>G , CM000663.1:g.68895802C>G	GRCh37
NC_000001.9:g.68668390C>G	NCBI36
NG_008472.1:g.24841G>C
NG_008472.2:g.24841G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1451-192G>C MANE Select	ENSP00000262340.5:n.1451-192G>C
ENST00000262340.5:c.1451-192G>C	ENSP00000262340.5:n.1451-192G>C
NM_000329.2:c.1451-192G>C	NP_000320.1:n.1451-192G>C
XM_017002027.1:c.1175-192G>C	XP_016857516.1:n.1175-192G>C
NM_000329.3:c.1451-192G>C MANE Select	NP_000320.1:n.1451-192G>C

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