Canonical Allele Identifier: CA340748945
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68912422A>C (hg19) chr1:g.68446739A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68446739A>C , CM000663.2:g.68446739A>C GRCh38
NC_000001.10:g.68912422A>C , CM000663.1:g.68912422A>C GRCh37
NC_000001.9:g.68685010A>C NCBI36
NG_008472.1:g.8221T>G
NG_008472.2:g.8221T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.216T>G MANE Select ENSP00000262340.5:p.Phe72Leu
ENST00000262340.5:c.216T>G ENSP00000262340.5:p.Phe72Leu
NM_000329.2:c.216T>G NP_000320.1:p.Phe72Leu
XM_017002027.1:c.-31-1856T>G XP_016857516.1:n.-31-1856T>G
NM_000329.3:c.216T>G MANE Select NP_000320.1:p.Phe72Leu
Search 100 bp 5'
Search 100 bp 3'