Canonical Allele Identifier: CA418278257
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2948063
ClinVar RCV Id: RCV003806885
MyVariant Identifiers: chr1:g.68897167T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431484T>G , CM000663.2:g.68431484T>G GRCh38
NC_000001.10:g.68897167T>G , CM000663.1:g.68897167T>G GRCh37
NC_000001.9:g.68669755T>G NCBI36
NG_008472.1:g.23476A>C
NG_008472.2:g.23476A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1230A>C MANE Select ENSP00000262340.5:p.Ser410=
ENST00000262340.5:c.1230A>C ENSP00000262340.5:p.Ser410=
NM_000329.2:c.1230A>C NP_000320.1:p.Ser410=
XM_017002027.1:c.954A>C XP_016857516.1:p.Ser318=
NM_000329.3:c.1230A>C MANE Select NP_000320.1:p.Ser410=
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