Canonical Allele Identifier: CA2646149884
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs2100819558
gnomAD v4: 1-68439507-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439507G>T , CM000663.2:g.68439507G>T GRCh38
NC_000001.10:g.68905190G>T , CM000663.1:g.68905190G>T GRCh37
NC_000001.9:g.68677778G>T NCBI36
NG_008472.1:g.15453C>A
NG_008472.2:g.15453C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+54C>A MANE Select ENSP00000262340.5:n.725+54C>A
ENST00000262340.5:c.725+54C>A ENSP00000262340.5:n.725+54C>A
NM_000329.2:c.725+54C>A NP_000320.1:n.725+54C>A
XM_017002027.1:c.449+54C>A XP_016857516.1:n.449+54C>A
NM_000329.3:c.725+54C>A MANE Select NP_000320.1:n.725+54C>A
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