Canonical Allele Identifier: CA340744432

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68903985T>A (hg19) ; chr1:g.68438302T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438302T>A , CM000663.2:g.68438302T>A	GRCh38
NC_000001.10:g.68903985T>A , CM000663.1:g.68903985T>A	GRCh37
NC_000001.9:g.68676573T>A	NCBI36
NG_008472.1:g.16658A>T
NG_008472.2:g.16658A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1013A>T MANE Select	ENSP00000262340.5:p.Tyr338Phe
ENST00000262340.5:c.1013A>T	ENSP00000262340.5:p.Tyr338Phe
NM_000329.2:c.1013A>T	NP_000320.1:p.Tyr338Phe
XM_017002027.1:c.737A>T	XP_016857516.1:p.Tyr246Phe
NM_000329.3:c.1013A>T MANE Select	NP_000320.1:p.Tyr338Phe