Canonical Allele Identifier: CA340744395
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68903977A>T (hg19) chr1:g.68438294A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438294A>T , CM000663.2:g.68438294A>T GRCh38
NC_000001.10:g.68903977A>T , CM000663.1:g.68903977A>T GRCh37
NC_000001.9:g.68676565A>T NCBI36
NG_008472.1:g.16666T>A
NG_008472.2:g.16666T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1021T>A MANE Select ENSP00000262340.5:p.Leu341Ile
ENST00000262340.5:c.1021T>A ENSP00000262340.5:p.Leu341Ile
NM_000329.2:c.1021T>A NP_000320.1:p.Leu341Ile
XM_017002027.1:c.745T>A XP_016857516.1:p.Leu249Ile
NM_000329.3:c.1021T>A MANE Select NP_000320.1:p.Leu341Ile
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