Canonical Allele Identifier: CA340741050

Gene: RPE65

Linked Data

• gnomAD v4: 1-68429837-G-A
• MyVariant Identifiers: chr1:g.68895520G>A (hg19) ; chr1:g.68429837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429837G>A , CM000663.2:g.68429837G>A	GRCh38
NC_000001.10:g.68895520G>A , CM000663.1:g.68895520G>A	GRCh37
NC_000001.9:g.68668108G>A	NCBI36
NG_008472.1:g.25123C>T
NG_008472.2:g.25123C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1541C>T MANE Select	ENSP00000262340.5:p.Ala514Val
ENST00000262340.5:c.1541C>T	ENSP00000262340.5:p.Ala514Val
NM_000329.2:c.1541C>T	NP_000320.1:p.Ala514Val
XM_017002027.1:c.1265C>T	XP_016857516.1:p.Ala422Val
NM_000329.3:c.1541C>T MANE Select	NP_000320.1:p.Ala514Val