Canonical Allele Identifier: CA340748976
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68912430A>T (hg19) chr1:g.68446747A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446747A>T , CM000663.2:g.68446747A>T GRCh38
NC_000001.10:g.68912430A>T , CM000663.1:g.68912430A>T GRCh37
NC_000001.9:g.68685018A>T NCBI36
NG_008472.1:g.8213T>A
NG_008472.2:g.8213T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.208T>A MANE Select ENSP00000262340.5:p.Phe70Ile
ENST00000262340.5:c.208T>A ENSP00000262340.5:p.Phe70Ile
NM_000329.2:c.208T>A NP_000320.1:p.Phe70Ile
XM_017002027.1:c.-31-1864T>A XP_016857516.1:n.-31-1864T>A
NM_000329.3:c.208T>A MANE Select NP_000320.1:p.Phe70Ile
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