Canonical Allele Identifier: CA523301924
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1406155411
gnomAD v2: 1-68910379-A-T
gnomAD v4: 1-68444696-A-T
MyVariant Identifiers: chr1:g.68910379A>T (hg19) chr1:g.68444696A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444696A>T , CM000663.2:g.68444696A>T GRCh38
NC_000001.10:g.68910379A>T , CM000663.1:g.68910379A>T GRCh37
NC_000001.9:g.68682967A>T NCBI36
NG_008472.1:g.10264T>A
NG_008472.2:g.10264T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-24T>A MANE Select ENSP00000262340.5:n.354-24T>A
ENST00000262340.5:c.354-24T>A ENSP00000262340.5:n.354-24T>A
NM_000329.2:c.354-24T>A NP_000320.1:n.354-24T>A
XM_017002027.1:c.78-24T>A XP_016857516.1:n.78-24T>A
NM_000329.3:c.354-24T>A MANE Select NP_000320.1:n.354-24T>A
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