Canonical Allele Identifier: CA1173557473
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429937A= , CM000663.2:g.68429937A= GRCh38
NC_000001.10:g.68895620A= , CM000663.1:g.68895620A= GRCh37
NC_000001.9:g.68668208A= NCBI36
NG_008472.1:g.25023T=
NG_008472.2:g.25023T=

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1451-10T= MANE Select ENSP00000262340.5:n.1451-10T=
ENST00000262340.5:c.1451-10T= ENSP00000262340.5:n.1451-10T=
NM_000329.2:c.1451-10T= NP_000320.1:n.1451-10T=
XM_017002027.1:c.1175-10T= XP_016857516.1:n.1175-10T=
NM_000329.3:c.1451-10T= MANE Select NP_000320.1:n.1451-10T=
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