Canonical Allele Identifier: CA340742139
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896822A>C (hg19) chr1:g.68431139A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431139A>C , CM000663.2:g.68431139A>C GRCh38
NC_000001.10:g.68896822A>C , CM000663.1:g.68896822A>C GRCh37
NC_000001.9:g.68669410A>C NCBI36
NG_008472.1:g.23821T>G
NG_008472.2:g.23821T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1376T>G MANE Select ENSP00000262340.5:p.Val459Gly
ENST00000262340.5:c.1376T>G ENSP00000262340.5:p.Val459Gly
NM_000329.2:c.1376T>G NP_000320.1:p.Val459Gly
XM_017002027.1:c.1100T>G XP_016857516.1:p.Val367Gly
NM_000329.3:c.1376T>G MANE Select NP_000320.1:p.Val459Gly
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