Canonical Allele Identifier: CA340744429
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68903984A>T (hg19) chr1:g.68438301A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438301A>T , CM000663.2:g.68438301A>T GRCh38
NC_000001.10:g.68903984A>T , CM000663.1:g.68903984A>T GRCh37
NC_000001.9:g.68676572A>T NCBI36
NG_008472.1:g.16659T>A
NG_008472.2:g.16659T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1014T>A MANE Select ENSP00000262340.5:p.Tyr338Ter
ENST00000262340.5:c.1014T>A ENSP00000262340.5:p.Tyr338Ter
NM_000329.2:c.1014T>A NP_000320.1:p.Tyr338Ter
XM_017002027.1:c.738T>A XP_016857516.1:p.Tyr246Ter
NM_000329.3:c.1014T>A MANE Select NP_000320.1:p.Tyr338Ter
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