Allele Registry

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Canonical Allele Identifier: CA902202

Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs753727990

ExAC: 1:68896916 A / G

gnomAD v2: 1-68896916-A-G

MyVariant Identifiers: chr1:g.68896916A>G (hg19) chr1:g.68431233A>G (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431233A>G , CM000663.2:g.68431233A>G	GRCh38
NC_000001.10:g.68896916A>G , CM000663.1:g.68896916A>G	GRCh37
NC_000001.9:g.68669504A>G	NCBI36
NG_008472.1:g.23727T>C
NG_008472.2:g.23727T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1338+49T>C MANE Select	ENSP00000262340.5:n.1338+49T>C
ENST00000262340.5:c.1338+49T>C	ENSP00000262340.5:n.1338+49T>C
NM_000329.2:c.1338+49T>C	NP_000320.1:n.1338+49T>C
XM_017002027.1:c.1062+49T>C	XP_016857516.1:n.1062+49T>C
NM_000329.3:c.1338+49T>C MANE Select	NP_000320.1:n.1338+49T>C

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