Canonical Allele Identifier: CA340742242
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896841T>A (hg19) chr1:g.68431158T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431158T>A , CM000663.2:g.68431158T>A GRCh38
NC_000001.10:g.68896841T>A , CM000663.1:g.68896841T>A GRCh37
NC_000001.9:g.68669429T>A NCBI36
NG_008472.1:g.23802A>T
NG_008472.2:g.23802A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1357A>T MANE Select ENSP00000262340.5:p.Lys453Ter
ENST00000262340.5:c.1357A>T ENSP00000262340.5:p.Lys453Ter
NM_000329.2:c.1357A>T NP_000320.1:p.Lys453Ter
XM_017002027.1:c.1081A>T XP_016857516.1:p.Lys361Ter
NM_000329.3:c.1357A>T MANE Select NP_000320.1:p.Lys453Ter
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