Canonical Allele Identifier: CA1173563468
Gene: RPE65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444771G= , CM000663.2:g.68444771G= GRCh38
NC_000001.10:g.68910454G= , CM000663.1:g.68910454G= GRCh37
NC_000001.9:g.68683042G= NCBI36
NG_008472.1:g.10189C=
NG_008472.2:g.10189C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+5C= MANE Select ENSP00000262340.5:n.353+5C=
ENST00000262340.5:c.353+5C= ENSP00000262340.5:n.353+5C=
NM_000329.2:c.353+5C= NP_000320.1:n.353+5C=
XM_017002027.1:c.77+5C= XP_016857516.1:n.77+5C=
NM_000329.3:c.353+5C= MANE Select NP_000320.1:n.353+5C=
Search 100 bp 5'
Search 100 bp 3'