Canonical Allele Identifier: CA340742355
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431282C>G , CM000663.2:g.68431282C>G GRCh38
NC_000001.10:g.68896965C>G , CM000663.1:g.68896965C>G GRCh37
NC_000001.9:g.68669553C>G NCBI36
NG_008472.1:g.23678G>C
NG_008472.2:g.23678G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1338G>C MANE Select ENSP00000262340.5:p.Arg446Ser
ENST00000262340.5:c.1338G>C ENSP00000262340.5:p.Arg446Ser
NM_000329.2:c.1338G>C NP_000320.1:p.Arg446Ser
XM_017002027.1:c.1062G>C XP_016857516.1:p.Arg354Ser
NM_000329.3:c.1338G>C MANE Select NP_000320.1:p.Arg446Ser