Canonical Allele Identifier: CA1173557472
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429936C= , CM000663.2:g.68429936C= GRCh38
NC_000001.10:g.68895619C= , CM000663.1:g.68895619C= GRCh37
NC_000001.9:g.68668207C= NCBI36
NG_008472.1:g.25024G=
NG_008472.2:g.25024G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1451-9G= MANE Select ENSP00000262340.5:n.1451-9G=
ENST00000262340.5:c.1451-9G= ENSP00000262340.5:n.1451-9G=
NM_000329.2:c.1451-9G= NP_000320.1:n.1451-9G=
XM_017002027.1:c.1175-9G= XP_016857516.1:n.1175-9G=
NM_000329.3:c.1451-9G= MANE Select NP_000320.1:n.1451-9G=
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