Canonical Allele Identifier: CA2519961037
Gene: RPE65 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444706T>A , CM000663.2:g.68444706T>A GRCh38
NC_000001.10:g.68910389T>A , CM000663.1:g.68910389T>A GRCh37
NC_000001.9:g.68682977T>A NCBI36
NG_008472.1:g.10254A>T
NG_008472.2:g.10254A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-34A>T MANE Select ENSP00000262340.5:n.354-34A>T
ENST00000262340.5:c.354-34A>T ENSP00000262340.5:n.354-34A>T
NM_000329.2:c.354-34A>T NP_000320.1:n.354-34A>T
XM_017002027.1:c.78-34A>T XP_016857516.1:n.78-34A>T
NM_000329.3:c.354-34A>T MANE Select NP_000320.1:n.354-34A>T
Search 100 bp 5'
Search 100 bp 3'