Canonical Allele Identifier: CA738208239
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1284433785
gnomAD v4: 1-68429683-A-G
MyVariant Identifiers: chr1:g.68895366A>G (hg19) chr1:g.68429683A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429683A>G , CM000663.2:g.68429683A>G GRCh38
NC_000001.10:g.68895366A>G , CM000663.1:g.68895366A>G GRCh37
NC_000001.9:g.68667954A>G NCBI36
NG_008472.1:g.25277T>C
NG_008472.2:g.25277T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*93T>C MANE Select ENSP00000262340.5:n.*93T>C
ENST00000262340.5:c.*93T>C ENSP00000262340.5:n.*93T>C
NM_000329.2:c.*93T>C NP_000320.1:n.*93T>C
XM_017002027.1:c.*93T>C XP_016857516.1:n.*93T>C
NM_000329.3:c.*93T>C MANE Select NP_000320.1:n.*93T>C
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