Canonical Allele Identifier: CA418282697
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1140205
ClinVar RCV Id: RCV001477171
dbSNP Id: rs750892483
MyVariant Identifiers: chr1:g.68910262G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444579G>A , CM000663.2:g.68444579G>A GRCh38
NC_000001.10:g.68910262G>A , CM000663.1:g.68910262G>A GRCh37
NC_000001.9:g.68682850G>A NCBI36
NG_008472.1:g.10381C>T
NG_008472.2:g.10381C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.447C>T MANE Select ENSP00000262340.5:p.Thr149=
ENST00000262340.5:c.447C>T ENSP00000262340.5:p.Thr149=
NM_000329.2:c.447C>T NP_000320.1:p.Thr149=
XM_017002027.1:c.171C>T XP_016857516.1:p.Thr57=
NM_000329.3:c.447C>T MANE Select NP_000320.1:p.Thr149=
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