Canonical Allele Identifier: CA340742306
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896856A>G (hg19) chr1:g.68431173A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431173A>G , CM000663.2:g.68431173A>G GRCh38
NC_000001.10:g.68896856A>G , CM000663.1:g.68896856A>G GRCh37
NC_000001.9:g.68669444A>G NCBI36
NG_008472.1:g.23787T>C
NG_008472.2:g.23787T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1342T>C MANE Select ENSP00000262340.5:p.Cys448Arg
ENST00000262340.5:c.1342T>C ENSP00000262340.5:p.Cys448Arg
NM_000329.2:c.1342T>C NP_000320.1:p.Cys448Arg
XM_017002027.1:c.1066T>C XP_016857516.1:p.Cys356Arg
NM_000329.3:c.1342T>C MANE Select NP_000320.1:p.Cys448Arg
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Search 100 bp 3'