Canonical Allele Identifier: CA418278228
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs2100807739
MyVariant Identifiers: chr1:g.68897158A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431475A>G , CM000663.2:g.68431475A>G GRCh38
NC_000001.10:g.68897158A>G , CM000663.1:g.68897158A>G GRCh37
NC_000001.9:g.68669746A>G NCBI36
NG_008472.1:g.23485T>C
NG_008472.2:g.23485T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1239T>C MANE Select ENSP00000262340.5:p.Arg413=
ENST00000262340.5:c.1239T>C ENSP00000262340.5:p.Arg413=
NM_000329.2:c.1239T>C NP_000320.1:p.Arg413=
XM_017002027.1:c.963T>C XP_016857516.1:p.Arg321=
NM_000329.3:c.1239T>C MANE Select NP_000320.1:p.Arg413=
Search 100 bp 5'
Search 100 bp 3'