Canonical Allele Identifier: CA2646150377
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68444759-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444759A>T , CM000663.2:g.68444759A>T GRCh38
NC_000001.10:g.68910442A>T , CM000663.1:g.68910442A>T GRCh37
NC_000001.9:g.68683030A>T NCBI36
NG_008472.1:g.10201T>A
NG_008472.2:g.10201T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.353+17T>A MANE Select ENSP00000262340.5:n.353+17T>A
ENST00000262340.5:c.353+17T>A ENSP00000262340.5:n.353+17T>A
NM_000329.2:c.353+17T>A NP_000320.1:n.353+17T>A
XM_017002027.1:c.77+17T>A XP_016857516.1:n.77+17T>A
NM_000329.3:c.353+17T>A MANE Select NP_000320.1:n.353+17T>A
Search 100 bp 5'
Search 100 bp 3'