Canonical Allele Identifier: CA2517610290
Gene: RPE65 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439510A>G , CM000663.2:g.68439510A>G GRCh38
NC_000001.10:g.68905193A>G , CM000663.1:g.68905193A>G GRCh37
NC_000001.9:g.68677781A>G NCBI36
NG_008472.1:g.15450T>C
NG_008472.2:g.15450T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+51T>C MANE Select ENSP00000262340.5:n.725+51T>C
ENST00000262340.5:c.725+51T>C ENSP00000262340.5:n.725+51T>C
NM_000329.2:c.725+51T>C NP_000320.1:n.725+51T>C
XM_017002027.1:c.449+51T>C XP_016857516.1:n.449+51T>C
NM_000329.3:c.725+51T>C MANE Select NP_000320.1:n.725+51T>C
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