Canonical Allele Identifier: CA738208261
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1216379239
gnomAD v3: 1-68429687-A-T
gnomAD v4: 1-68429687-A-T
MyVariant Identifiers: chr1:g.68895370A>T (hg19) chr1:g.68429687A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429687A>T , CM000663.2:g.68429687A>T GRCh38
NC_000001.10:g.68895370A>T , CM000663.1:g.68895370A>T GRCh37
NC_000001.9:g.68667958A>T NCBI36
NG_008472.1:g.25273T>A
NG_008472.2:g.25273T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*89T>A MANE Select ENSP00000262340.5:n.*89T>A
ENST00000262340.5:c.*89T>A ENSP00000262340.5:n.*89T>A
NM_000329.2:c.*89T>A NP_000320.1:n.*89T>A
XM_017002027.1:c.*89T>A XP_016857516.1:n.*89T>A
NM_000329.3:c.*89T>A MANE Select NP_000320.1:n.*89T>A
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