Canonical Allele Identifier: CA2646149537
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429637-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429637G>T , CM000663.2:g.68429637G>T GRCh38
NC_000001.10:g.68895320G>T , CM000663.1:g.68895320G>T GRCh37
NC_000001.9:g.68667908G>T NCBI36
NG_008472.1:g.25323C>A
NG_008472.2:g.25323C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*139C>A MANE Select ENSP00000262340.5:n.*139C>A
ENST00000262340.5:c.*139C>A ENSP00000262340.5:n.*139C>A
NM_000329.2:c.*139C>A NP_000320.1:n.*139C>A
XM_017002027.1:c.*139C>A XP_016857516.1:n.*139C>A
NM_000329.3:c.*139C>A MANE Select NP_000320.1:n.*139C>A
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