Canonical Allele Identifier: CA1143765214
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429930G= , CM000663.2:g.68429930G= GRCh38
NC_000001.10:g.68895613G= , CM000663.1:g.68895613G= GRCh37
NC_000001.9:g.68668201G= NCBI36
NG_008472.1:g.25030C=
NG_008472.2:g.25030C=

Transcript Alleles

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