Canonical Allele Identifier: CA340744406
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68903980A>C (hg19) chr1:g.68438297A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438297A>C , CM000663.2:g.68438297A>C GRCh38
NC_000001.10:g.68903980A>C , CM000663.1:g.68903980A>C GRCh37
NC_000001.9:g.68676568A>C NCBI36
NG_008472.1:g.16663T>G
NG_008472.2:g.16663T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1018T>G MANE Select ENSP00000262340.5:p.Tyr340Asp
ENST00000262340.5:c.1018T>G ENSP00000262340.5:p.Tyr340Asp
NM_000329.2:c.1018T>G NP_000320.1:p.Tyr340Asp
XM_017002027.1:c.742T>G XP_016857516.1:p.Tyr248Asp
NM_000329.3:c.1018T>G MANE Select NP_000320.1:p.Tyr340Asp
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