Canonical Allele Identifier: CA418277526
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896836A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431153A>T , CM000663.2:g.68431153A>T GRCh38
NC_000001.10:g.68896836A>T , CM000663.1:g.68896836A>T GRCh37
NC_000001.9:g.68669424A>T NCBI36
NG_008472.1:g.23807T>A
NG_008472.2:g.23807T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1362T>A MANE Select ENSP00000262340.5:p.Thr454=
ENST00000262340.5:c.1362T>A ENSP00000262340.5:p.Thr454=
NM_000329.2:c.1362T>A NP_000320.1:p.Thr454=
XM_017002027.1:c.1086T>A XP_016857516.1:p.Thr362=
NM_000329.3:c.1362T>A MANE Select NP_000320.1:p.Thr454=
Search 100 bp 5'
Search 100 bp 3'