Canonical Allele Identifier: CA418276149
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895519G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429836G>C , CM000663.2:g.68429836G>C GRCh38
NC_000001.10:g.68895519G>C , CM000663.1:g.68895519G>C GRCh37
NC_000001.9:g.68668107G>C NCBI36
NG_008472.1:g.25124C>G
NG_008472.2:g.25124C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1542C>G MANE Select ENSP00000262340.5:p.Ala514=
ENST00000262340.5:c.1542C>G ENSP00000262340.5:p.Ala514=
NM_000329.2:c.1542C>G NP_000320.1:p.Ala514=
XM_017002027.1:c.1266C>G XP_016857516.1:p.Ala422=
NM_000329.3:c.1542C>G MANE Select NP_000320.1:p.Ala514=
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