Canonical Allele Identifier: CA738208234
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1489591456
gnomAD v4: 1-68429672-A-T
MyVariant Identifiers: chr1:g.68895355A>T (hg19) chr1:g.68429672A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429672A>T , CM000663.2:g.68429672A>T GRCh38
NC_000001.10:g.68895355A>T , CM000663.1:g.68895355A>T GRCh37
NC_000001.9:g.68667943A>T NCBI36
NG_008472.1:g.25288T>A
NG_008472.2:g.25288T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*104T>A MANE Select ENSP00000262340.5:n.*104T>A
ENST00000262340.5:c.*104T>A ENSP00000262340.5:n.*104T>A
NM_000329.2:c.*104T>A NP_000320.1:n.*104T>A
XM_017002027.1:c.*104T>A XP_016857516.1:n.*104T>A
NM_000329.3:c.*104T>A MANE Select NP_000320.1:n.*104T>A
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