Canonical Allele Identifier: CA340748946

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68912422A>T (hg19) ; chr1:g.68446739A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.216T>A MANE Select	ENSP00000262340.5:p.Phe72Leu
ENST00000262340.5:c.216T>A	ENSP00000262340.5:p.Phe72Leu
NM_000329.2:c.216T>A	NP_000320.1:p.Phe72Leu
XM_017002027.1:c.-31-1856T>A	XP_016857516.1:n.-31-1856T>A
NM_000329.3:c.216T>A MANE Select	NP_000320.1:p.Phe72Leu