Canonical Allele Identifier: CA340747883
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910300A>C (hg19) chr1:g.68444617A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444617A>C , CM000663.2:g.68444617A>C GRCh38
NC_000001.10:g.68910300A>C , CM000663.1:g.68910300A>C GRCh37
NC_000001.9:g.68682888A>C NCBI36
NG_008472.1:g.10343T>G
NG_008472.2:g.10343T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.409T>G MANE Select ENSP00000262340.5:p.Tyr137Asp
ENST00000262340.5:c.409T>G ENSP00000262340.5:p.Tyr137Asp
NM_000329.2:c.409T>G NP_000320.1:p.Tyr137Asp
XM_017002027.1:c.133T>G XP_016857516.1:p.Tyr45Asp
NM_000329.3:c.409T>G MANE Select NP_000320.1:p.Tyr137Asp
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