Canonical Allele Identifier: CA2646150379

Gene: RPE65

Linked Data

• gnomAD v4: 1-68444764-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444764G>A , CM000663.2:g.68444764G>A	GRCh38
NC_000001.10:g.68910447G>A , CM000663.1:g.68910447G>A	GRCh37
NC_000001.9:g.68683035G>A	NCBI36
NG_008472.1:g.10196C>T
NG_008472.2:g.10196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.353+12C>T MANE Select	ENSP00000262340.5:n.353+12C>T
ENST00000262340.5:c.353+12C>T	ENSP00000262340.5:n.353+12C>T
NM_000329.2:c.353+12C>T	NP_000320.1:n.353+12C>T
XM_017002027.1:c.77+12C>T	XP_016857516.1:n.77+12C>T
NM_000329.3:c.353+12C>T MANE Select	NP_000320.1:n.353+12C>T