Canonical Allele Identifier: CA2574402947
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68439521-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439521T>C , CM000663.2:g.68439521T>C GRCh38
NC_000001.10:g.68905204T>C , CM000663.1:g.68905204T>C GRCh37
NC_000001.9:g.68677792T>C NCBI36
NG_008472.1:g.15439A>G
NG_008472.2:g.15439A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+40A>G MANE Select ENSP00000262340.5:n.725+40A>G
ENST00000262340.5:c.725+40A>G ENSP00000262340.5:n.725+40A>G
NM_000329.2:c.725+40A>G NP_000320.1:n.725+40A>G
XM_017002027.1:c.449+40A>G XP_016857516.1:n.449+40A>G
NM_000329.3:c.725+40A>G MANE Select NP_000320.1:n.725+40A>G
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