Canonical Allele Identifier: CA418276390
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895573T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429890T>A , CM000663.2:g.68429890T>A GRCh38
NC_000001.10:g.68895573T>A , CM000663.1:g.68895573T>A GRCh37
NC_000001.9:g.68668161T>A NCBI36
NG_008472.1:g.25070A>T
NG_008472.2:g.25070A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1488A>T MANE Select ENSP00000262340.5:p.Gly496=
ENST00000262340.5:c.1488A>T ENSP00000262340.5:p.Gly496=
NM_000329.2:c.1488A>T NP_000320.1:p.Gly496=
XM_017002027.1:c.1212A>T XP_016857516.1:p.Gly404=
NM_000329.3:c.1488A>T MANE Select NP_000320.1:p.Gly496=