Canonical Allele Identifier: CA340742910
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68897168G>A (hg19) chr1:g.68431485G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431485G>A , CM000663.2:g.68431485G>A GRCh38
NC_000001.10:g.68897168G>A , CM000663.1:g.68897168G>A GRCh37
NC_000001.9:g.68669756G>A NCBI36
NG_008472.1:g.23475C>T
NG_008472.2:g.23475C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1229C>T MANE Select ENSP00000262340.5:p.Ser410Leu
ENST00000262340.5:c.1229C>T ENSP00000262340.5:p.Ser410Leu
NM_000329.2:c.1229C>T NP_000320.1:p.Ser410Leu
XM_017002027.1:c.953C>T XP_016857516.1:p.Ser318Leu
NM_000329.3:c.1229C>T MANE Select NP_000320.1:p.Ser410Leu
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