Canonical Allele Identifier: CA340742384

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68896977A>T (hg19) ; chr1:g.68431294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68431294A>T , CM000663.2:g.68431294A>T	GRCh38
NC_000001.10:g.68896977A>T , CM000663.1:g.68896977A>T	GRCh37
NC_000001.9:g.68669565A>T	NCBI36
NG_008472.1:g.23666T>A
NG_008472.2:g.23666T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1326T>A MANE Select	ENSP00000262340.5:p.Phe442Leu
ENST00000262340.5:c.1326T>A	ENSP00000262340.5:p.Phe442Leu
NM_000329.2:c.1326T>A	NP_000320.1:p.Phe442Leu
XM_017002027.1:c.1050T>A	XP_016857516.1:p.Phe350Leu
NM_000329.3:c.1326T>A MANE Select	NP_000320.1:p.Phe442Leu