Canonical Allele Identifier: CA340742821
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431474G>T , CM000663.2:g.68431474G>T GRCh38
NC_000001.10:g.68897157G>T , CM000663.1:g.68897157G>T GRCh37
NC_000001.9:g.68669745G>T NCBI36
NG_008472.1:g.23486C>A
NG_008472.2:g.23486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1240C>A MANE Select ENSP00000262340.5:p.Gln414Lys
ENST00000262340.5:c.1240C>A ENSP00000262340.5:p.Gln414Lys
NM_000329.2:c.1240C>A NP_000320.1:p.Gln414Lys
XM_017002027.1:c.964C>A XP_016857516.1:p.Gln322Lys
NM_000329.3:c.1240C>A MANE Select NP_000320.1:p.Gln414Lys