Canonical Allele Identifier: CA340748070

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910457A>T (hg19) ; chr1:g.68444774A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444774A>T , CM000663.2:g.68444774A>T	GRCh38
NC_000001.10:g.68910457A>T , CM000663.1:g.68910457A>T	GRCh37
NC_000001.9:g.68683045A>T	NCBI36
NG_008472.1:g.10186T>A
NG_008472.2:g.10186T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353+2T>A MANE Select	ENSP00000262340.5:n.353+2T>A
ENST00000262340.5:c.353+2T>A	ENSP00000262340.5:n.353+2T>A
NM_000329.2:c.353+2T>A	NP_000320.1:n.353+2T>A
XM_017002027.1:c.77+2T>A	XP_016857516.1:n.77+2T>A
NM_000329.3:c.353+2T>A MANE Select	NP_000320.1:n.353+2T>A