Canonical Allele Identifier: CA902249
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs369142161
gnomAD v2: 1-68897160-G-T
gnomAD v4: 1-68431477-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431477G>T , CM000663.2:g.68431477G>T GRCh38
NC_000001.10:g.68897160G>T , CM000663.1:g.68897160G>T GRCh37
NC_000001.9:g.68669748G>T NCBI36
NG_008472.1:g.23483C>A
NG_008472.2:g.23483C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1237C>A MANE Select ENSP00000262340.5:p.Arg413Ser
ENST00000262340.5:c.1237C>A ENSP00000262340.5:p.Arg413Ser
NM_000329.2:c.1237C>A NP_000320.1:p.Arg413Ser
XM_017002027.1:c.961C>A XP_016857516.1:p.Arg321Ser
NM_000329.3:c.1237C>A MANE Select NP_000320.1:p.Arg413Ser