Canonical Allele Identifier: CA646107210
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431262T>A , CM000663.2:g.68431262T>A GRCh38
NC_000001.10:g.68896945T>A , CM000663.1:g.68896945T>A GRCh37
NC_000001.9:g.68669533T>A NCBI36
NG_008472.1:g.23698A>T
NG_008472.2:g.23698A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338+20A>T MANE Select ENSP00000262340.5:n.1338+20A>T
ENST00000262340.5:c.1338+20A>T ENSP00000262340.5:n.1338+20A>T
NM_000329.2:c.1338+20A>T NP_000320.1:n.1338+20A>T
XM_017002027.1:c.1062+20A>T XP_016857516.1:n.1062+20A>T
NM_000329.3:c.1338+20A>T MANE Select NP_000320.1:n.1338+20A>T