Canonical Allele Identifier: CA418282694
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2089225
ClinVar RCV Id: RCV003003096
MyVariant Identifiers: chr1:g.68910250T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444567T>G , CM000663.2:g.68444567T>G GRCh38
NC_000001.10:g.68910250T>G , CM000663.1:g.68910250T>G GRCh37
NC_000001.9:g.68682838T>G NCBI36
NG_008472.1:g.10393A>C
NG_008472.2:g.10393A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.459A>C MANE Select ENSP00000262340.5:p.Thr153=
ENST00000262340.5:c.459A>C ENSP00000262340.5:p.Thr153=
NM_000329.2:c.459A>C NP_000320.1:p.Thr153=
XM_017002027.1:c.183A>C XP_016857516.1:p.Thr61=
NM_000329.3:c.459A>C MANE Select NP_000320.1:p.Thr153=
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