Canonical Allele Identifier: CA340748088
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910462G>C (hg19) chr1:g.68444779G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444779G>C , CM000663.2:g.68444779G>C GRCh38
NC_000001.10:g.68910462G>C , CM000663.1:g.68910462G>C GRCh37
NC_000001.9:g.68683050G>C NCBI36
NG_008472.1:g.10181C>G
NG_008472.2:g.10181C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.350C>G MANE Select ENSP00000262340.5:p.Ser117Cys
ENST00000262340.5:c.350C>G ENSP00000262340.5:p.Ser117Cys
NM_000329.2:c.350C>G NP_000320.1:p.Ser117Cys
XM_017002027.1:c.74C>G XP_016857516.1:p.Ser25Cys
NM_000329.3:c.350C>G MANE Select NP_000320.1:p.Ser117Cys
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