Canonical Allele Identifier: CA340742280
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68896851C>A (hg19) chr1:g.68431168C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431168C>A , CM000663.2:g.68431168C>A GRCh38
NC_000001.10:g.68896851C>A , CM000663.1:g.68896851C>A GRCh37
NC_000001.9:g.68669439C>A NCBI36
NG_008472.1:g.23792G>T
NG_008472.2:g.23792G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1347G>T MANE Select ENSP00000262340.5:p.Lys449Asn
ENST00000262340.5:c.1347G>T ENSP00000262340.5:p.Lys449Asn
NM_000329.2:c.1347G>T NP_000320.1:p.Lys449Asn
XM_017002027.1:c.1071G>T XP_016857516.1:p.Lys357Asn
NM_000329.3:c.1347G>T MANE Select NP_000320.1:p.Lys449Asn
Search 100 bp 5'
Search 100 bp 3'