Canonical Allele Identifier: CA340742906
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431483C>T , CM000663.2:g.68431483C>T GRCh38
NC_000001.10:g.68897166C>T , CM000663.1:g.68897166C>T GRCh37
NC_000001.9:g.68669754C>T NCBI36
NG_008472.1:g.23477G>A
NG_008472.2:g.23477G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1231G>A MANE Select ENSP00000262340.5:p.Gly411Arg
ENST00000262340.5:c.1231G>A ENSP00000262340.5:p.Gly411Arg
NM_000329.2:c.1231G>A NP_000320.1:p.Gly411Arg
XM_017002027.1:c.955G>A XP_016857516.1:p.Gly319Arg
NM_000329.3:c.1231G>A MANE Select NP_000320.1:p.Gly411Arg