Canonical Allele Identifier: CA340742248
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896843A>T (hg19) chr1:g.68431160A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431160A>T , CM000663.2:g.68431160A>T GRCh38
NC_000001.10:g.68896843A>T , CM000663.1:g.68896843A>T GRCh37
NC_000001.9:g.68669431A>T NCBI36
NG_008472.1:g.23800T>A
NG_008472.2:g.23800T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1355T>A MANE Select ENSP00000262340.5:p.Val452Asp
ENST00000262340.5:c.1355T>A ENSP00000262340.5:p.Val452Asp
NM_000329.2:c.1355T>A NP_000320.1:p.Val452Asp
XM_017002027.1:c.1079T>A XP_016857516.1:p.Val360Asp
NM_000329.3:c.1355T>A MANE Select NP_000320.1:p.Val452Asp
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