Canonical Allele Identifier: CA340748984
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68912432T>C (hg19) chr1:g.68446749T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446749T>C , CM000663.2:g.68446749T>C GRCh38
NC_000001.10:g.68912432T>C , CM000663.1:g.68912432T>C GRCh37
NC_000001.9:g.68685020T>C NCBI36
NG_008472.1:g.8211A>G
NG_008472.2:g.8211A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.206A>G MANE Select ENSP00000262340.5:p.Lys69Arg
ENST00000262340.5:c.206A>G ENSP00000262340.5:p.Lys69Arg
NM_000329.2:c.206A>G NP_000320.1:p.Lys69Arg
XM_017002027.1:c.-31-1866A>G XP_016857516.1:n.-31-1866A>G
NM_000329.3:c.206A>G MANE Select NP_000320.1:p.Lys69Arg
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