Canonical Allele Identifier: CA902184
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372089
ClinVar RCV Id: RCV001907922
dbSNP Id: rs375358477
ExAC: 1:68896811 G / T
gnomAD v2: 1-68896811-G-T
gnomAD v4: 1-68431128-G-T
MyVariant Identifiers: chr1:g.68896811G>T (hg19) chr1:g.68431128G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431128G>T , CM000663.2:g.68431128G>T GRCh38
NC_000001.10:g.68896811G>T , CM000663.1:g.68896811G>T GRCh37
NC_000001.9:g.68669399G>T NCBI36
NG_008472.1:g.23832C>A
NG_008472.2:g.23832C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1387C>A MANE Select ENSP00000262340.5:p.Pro463Thr
ENST00000262340.5:c.1387C>A ENSP00000262340.5:p.Pro463Thr
NM_000329.2:c.1387C>A NP_000320.1:p.Pro463Thr
XM_017002027.1:c.1111C>A XP_016857516.1:p.Pro371Thr
NM_000329.3:c.1387C>A MANE Select NP_000320.1:p.Pro463Thr
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