Canonical Allele Identifier: CA340740490
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429776T>C , CM000663.2:g.68429776T>C GRCh38
NC_000001.10:g.68895459T>C , CM000663.1:g.68895459T>C GRCh37
NC_000001.9:g.68668047T>C NCBI36
NG_008472.1:g.25184A>G
NG_008472.2:g.25184A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1602A>G MANE Select ENSP00000262340.5:p.Ter534Trp
ENST00000262340.5:c.1602A>G ENSP00000262340.5:p.Ter534Trp
NM_000329.2:c.1602A>G NP_000320.1:p.Ter534Trp
XM_017002027.1:c.1326A>G XP_016857516.1:p.Ter442Trp
NM_000329.3:c.1602A>G MANE Select NP_000320.1:p.Ter534Trp