Canonical Allele Identifier: CA2841082720

Gene: RPE65

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444488C>A , CM000663.2:g.68444488C>A	GRCh38
NC_000001.10:g.68910171C>A , CM000663.1:g.68910171C>A	GRCh37
NC_000001.9:g.68682759C>A	NCBI36
NG_008472.1:g.10472G>T
NG_008472.2:g.10472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.495+43G>T MANE Select	ENSP00000262340.5:n.495+43G>T
ENST00000262340.5:c.495+43G>T	ENSP00000262340.5:n.495+43G>T
NM_000329.2:c.495+43G>T	NP_000320.1:n.495+43G>T
XM_017002027.1:c.219+43G>T	XP_016857516.1:n.219+43G>T
NM_000329.3:c.495+43G>T MANE Select	NP_000320.1:n.495+43G>T