Canonical Allele Identifier: CA418276159
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895522A>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429839A>G , CM000663.2:g.68429839A>G GRCh38
NC_000001.10:g.68895522A>G , CM000663.1:g.68895522A>G GRCh37
NC_000001.9:g.68668110A>G NCBI36
NG_008472.1:g.25121T>C
NG_008472.2:g.25121T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1539T>C MANE Select ENSP00000262340.5:p.Val513=
ENST00000262340.5:c.1539T>C ENSP00000262340.5:p.Val513=
NM_000329.2:c.1539T>C NP_000320.1:p.Val513=
XM_017002027.1:c.1263T>C XP_016857516.1:p.Val421=
NM_000329.3:c.1539T>C MANE Select NP_000320.1:p.Val513=
Search 100 bp 5'
Search 100 bp 3'