Canonical Allele Identifier: CA902523
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs766433624
ExAC: 1:68910349 A / G
gnomAD v2: 1-68910349-A-G
gnomAD v4: 1-68444666-A-G
MyVariant Identifiers: chr1:g.68910349A>G (hg19) chr1:g.68444666A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444666A>G , CM000663.2:g.68444666A>G GRCh38
NC_000001.10:g.68910349A>G , CM000663.1:g.68910349A>G GRCh37
NC_000001.9:g.68682937A>G NCBI36
NG_008472.1:g.10294T>C
NG_008472.2:g.10294T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.360T>C MANE Select ENSP00000262340.5:p.Phe120=
ENST00000262340.5:c.360T>C ENSP00000262340.5:p.Phe120=
NM_000329.2:c.360T>C NP_000320.1:p.Phe120=
XM_017002027.1:c.84T>C XP_016857516.1:p.Phe28=
NM_000329.3:c.360T>C MANE Select NP_000320.1:p.Phe120=
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