Canonical Allele Identifier: CA340748030
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910354A>T (hg19) chr1:g.68444671A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444671A>T , CM000663.2:g.68444671A>T GRCh38
NC_000001.10:g.68910354A>T , CM000663.1:g.68910354A>T GRCh37
NC_000001.9:g.68682942A>T NCBI36
NG_008472.1:g.10289T>A
NG_008472.2:g.10289T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.355T>A MANE Select ENSP00000262340.5:p.Phe119Ile
ENST00000262340.5:c.355T>A ENSP00000262340.5:p.Phe119Ile
NM_000329.2:c.355T>A NP_000320.1:p.Phe119Ile
XM_017002027.1:c.79T>A XP_016857516.1:p.Phe27Ile
NM_000329.3:c.355T>A MANE Select NP_000320.1:p.Phe119Ile
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