Canonical Allele Identifier: CA1173563356

Gene: RPE65

Linked Data

• dbSNP Id: rs1645926729
• gnomAD v4: 1-68444475-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444475T>A , CM000663.2:g.68444475T>A	GRCh38
NC_000001.10:g.68910158T>A , CM000663.1:g.68910158T>A	GRCh37
NC_000001.9:g.68682746T>A	NCBI36
NG_008472.1:g.10485A>T
NG_008472.2:g.10485A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.495+56A>T MANE Select	ENSP00000262340.5:n.495+56A>T
ENST00000262340.5:c.495+56A>T	ENSP00000262340.5:n.495+56A>T
NM_000329.2:c.495+56A>T	NP_000320.1:n.495+56A>T
XM_017002027.1:c.219+56A>T	XP_016857516.1:n.219+56A>T
NM_000329.3:c.495+56A>T MANE Select	NP_000320.1:n.495+56A>T