Canonical Allele Identifier: CA340742132
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896820A>T (hg19) chr1:g.68431137A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431137A>T , CM000663.2:g.68431137A>T GRCh38
NC_000001.10:g.68896820A>T , CM000663.1:g.68896820A>T GRCh37
NC_000001.9:g.68669408A>T NCBI36
NG_008472.1:g.23823T>A
NG_008472.2:g.23823T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1378T>A MANE Select ENSP00000262340.5:p.Trp460Arg
ENST00000262340.5:c.1378T>A ENSP00000262340.5:p.Trp460Arg
NM_000329.2:c.1378T>A NP_000320.1:p.Trp460Arg
XM_017002027.1:c.1102T>A XP_016857516.1:p.Trp368Arg
NM_000329.3:c.1378T>A MANE Select NP_000320.1:p.Trp460Arg
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Search 100 bp 3'