Canonical Allele Identifier: CA340742293
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 2678432
ClinVar RCV Id: RCV003466242
MyVariant Identifiers: chr1:g.68896853T>A (hg19) chr1:g.68431170T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431170T>A , CM000663.2:g.68431170T>A GRCh38
NC_000001.10:g.68896853T>A , CM000663.1:g.68896853T>A GRCh37
NC_000001.9:g.68669441T>A NCBI36
NG_008472.1:g.23790A>T
NG_008472.2:g.23790A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1345A>T MANE Select ENSP00000262340.5:p.Lys449Ter
ENST00000262340.5:c.1345A>T ENSP00000262340.5:p.Lys449Ter
NM_000329.2:c.1345A>T NP_000320.1:p.Lys449Ter
XM_017002027.1:c.1069A>T XP_016857516.1:p.Lys357Ter
NM_000329.3:c.1345A>T MANE Select NP_000320.1:p.Lys449Ter
Search 100 bp 5'
Search 100 bp 3'