Canonical Allele Identifier: CA340747449
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910230A>C (hg19) chr1:g.68444547A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444547A>C , CM000663.2:g.68444547A>C GRCh38
NC_000001.10:g.68910230A>C , CM000663.1:g.68910230A>C GRCh37
NC_000001.9:g.68682818A>C NCBI36
NG_008472.1:g.10413T>G
NG_008472.2:g.10413T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.479T>G MANE Select ENSP00000262340.5:p.Leu160Trp
ENST00000262340.5:c.479T>G ENSP00000262340.5:p.Leu160Trp
NM_000329.2:c.479T>G NP_000320.1:p.Leu160Trp
XM_017002027.1:c.203T>G XP_016857516.1:p.Leu68Trp
NM_000329.3:c.479T>G MANE Select NP_000320.1:p.Leu160Trp
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