Canonical Allele Identifier: CA340747686
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910266T>A (hg19) chr1:g.68444583T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444583T>A , CM000663.2:g.68444583T>A GRCh38
NC_000001.10:g.68910266T>A , CM000663.1:g.68910266T>A GRCh37
NC_000001.9:g.68682854T>A NCBI36
NG_008472.1:g.10377A>T
NG_008472.2:g.10377A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.443A>T MANE Select ENSP00000262340.5:p.Glu148Val
ENST00000262340.5:c.443A>T ENSP00000262340.5:p.Glu148Val
NM_000329.2:c.443A>T NP_000320.1:p.Glu148Val
XM_017002027.1:c.167A>T XP_016857516.1:p.Glu56Val
NM_000329.3:c.443A>T MANE Select NP_000320.1:p.Glu148Val
Search 100 bp 5'
Search 100 bp 3'