Canonical Allele Identifier: CA1173563439
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444686T= , CM000663.2:g.68444686T= GRCh38
NC_000001.10:g.68910369T= , CM000663.1:g.68910369T= GRCh37
NC_000001.9:g.68682957T= NCBI36
NG_008472.1:g.10274A=
NG_008472.2:g.10274A=

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-14A= MANE Select ENSP00000262340.5:n.354-14A=
ENST00000262340.5:c.354-14A= ENSP00000262340.5:n.354-14A=
NM_000329.2:c.354-14A= NP_000320.1:n.354-14A=
XM_017002027.1:c.78-14A= XP_016857516.1:n.78-14A=
NM_000329.3:c.354-14A= MANE Select NP_000320.1:n.354-14A=
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