Canonical Allele Identifier: CA1173561342
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439508C= , CM000663.2:g.68439508C= GRCh38
NC_000001.10:g.68905191C= , CM000663.1:g.68905191C= GRCh37
NC_000001.9:g.68677779C= NCBI36
NG_008472.1:g.15452G=
NG_008472.2:g.15452G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+53G= MANE Select ENSP00000262340.5:n.725+53G=
ENST00000262340.5:c.725+53G= ENSP00000262340.5:n.725+53G=
NM_000329.2:c.725+53G= NP_000320.1:n.725+53G=
XM_017002027.1:c.449+53G= XP_016857516.1:n.449+53G=
NM_000329.3:c.725+53G= MANE Select NP_000320.1:n.725+53G=
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