Canonical Allele Identifier: CA340748943
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68912421T>C (hg19) chr1:g.68446738T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446738T>C , CM000663.2:g.68446738T>C GRCh38
NC_000001.10:g.68912421T>C , CM000663.1:g.68912421T>C GRCh37
NC_000001.9:g.68685009T>C NCBI36
NG_008472.1:g.8222A>G
NG_008472.2:g.8222A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.217A>G MANE Select ENSP00000262340.5:p.Lys73Glu
ENST00000262340.5:c.217A>G ENSP00000262340.5:p.Lys73Glu
NM_000329.2:c.217A>G NP_000320.1:p.Lys73Glu
XM_017002027.1:c.-31-1855A>G XP_016857516.1:n.-31-1855A>G
NM_000329.3:c.217A>G MANE Select NP_000320.1:p.Lys73Glu
Search 100 bp 5'
Search 100 bp 3'