Canonical Allele Identifier: CA418275525
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895462A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429779A>T , CM000663.2:g.68429779A>T GRCh38
NC_000001.10:g.68895462A>T , CM000663.1:g.68895462A>T GRCh37
NC_000001.9:g.68668050A>T NCBI36
NG_008472.1:g.25181T>A
NG_008472.2:g.25181T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1599T>A MANE Select ENSP00000262340.5:p.Ser533=
ENST00000262340.5:c.1599T>A ENSP00000262340.5:p.Ser533=
NM_000329.2:c.1599T>A NP_000320.1:p.Ser533=
XM_017002027.1:c.1323T>A XP_016857516.1:p.Ser441=
NM_000329.3:c.1599T>A MANE Select NP_000320.1:p.Ser533=