Canonical Allele Identifier: CA340747323
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910213C>T (hg19) chr1:g.68444530C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444530C>T , CM000663.2:g.68444530C>T GRCh38
NC_000001.10:g.68910213C>T , CM000663.1:g.68910213C>T GRCh37
NC_000001.9:g.68682801C>T NCBI36
NG_008472.1:g.10430G>A
NG_008472.2:g.10430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.495+1G>A MANE Select ENSP00000262340.5:n.495+1G>A
ENST00000262340.5:c.495+1G>A ENSP00000262340.5:n.495+1G>A
NM_000329.2:c.495+1G>A NP_000320.1:n.495+1G>A
XM_017002027.1:c.219+1G>A XP_016857516.1:n.219+1G>A
NM_000329.3:c.495+1G>A MANE Select NP_000320.1:n.495+1G>A
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