Canonical Allele Identifier: CA418276131

Gene: RPE65

Linked Data

• gnomAD v4: 1-68429830-A-T
• MyVariant Identifiers: chr1:g.68895513A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429830A>T , CM000663.2:g.68429830A>T	GRCh38
NC_000001.10:g.68895513A>T , CM000663.1:g.68895513A>T	GRCh37
NC_000001.9:g.68668101A>T	NCBI36
NG_008472.1:g.25130T>A
NG_008472.2:g.25130T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1548T>A MANE Select	ENSP00000262340.5:p.Ala516=
ENST00000262340.5:c.1548T>A	ENSP00000262340.5:p.Ala516=
NM_000329.2:c.1548T>A	NP_000320.1:p.Ala516=
XM_017002027.1:c.1272T>A	XP_016857516.1:p.Ala424=
NM_000329.3:c.1548T>A MANE Select	NP_000320.1:p.Ala516=