Canonical Allele Identifier: CA226582

Gene: RPE65

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68439190C>T , CM000663.2:g.68439190C>T	GRCh38
NC_000001.10:g.68904873C>T , CM000663.1:g.68904873C>T	GRCh37
NC_000001.9:g.68677461C>T	NCBI36
NG_008472.1:g.15770G>A
NG_008472.2:g.15770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.858+1G>A MANE Select	ENSP00000262340.5:n.858+1G>A
ENST00000262340.5:c.858+1G>A	ENSP00000262340.5:n.858+1G>A
NM_000329.2:c.858+1G>A	NP_000320.1:n.858+1G>A
XM_017002027.1:c.582+1G>A	XP_016857516.1:n.582+1G>A
NM_000329.3:c.858+1G>A MANE Select	NP_000320.1:n.858+1G>A