Canonical Allele Identifier: CA340744080
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438216T>A , CM000663.2:g.68438216T>A GRCh38
NC_000001.10:g.68903899T>A , CM000663.1:g.68903899T>A GRCh37
NC_000001.9:g.68676487T>A NCBI36
NG_008472.1:g.16744A>T
NG_008472.2:g.16744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1099A>T MANE Select ENSP00000262340.5:p.Arg367Ter
ENST00000262340.5:c.1099A>T ENSP00000262340.5:p.Arg367Ter
NM_000329.2:c.1099A>T NP_000320.1:p.Arg367Ter
XM_017002027.1:c.823A>T XP_016857516.1:p.Arg275Ter
NM_000329.3:c.1099A>T MANE Select NP_000320.1:p.Arg367Ter