Canonical Allele Identifier: CA340741054

Gene: RPE65

Linked Data

• dbSNP Id: rs2100805088
• MyVariant Identifiers: chr1:g.68895520G>T (hg19) ; chr1:g.68429837G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1541C>A MANE Select	ENSP00000262340.5:p.Ala514Asp
ENST00000262340.5:c.1541C>A	ENSP00000262340.5:p.Ala514Asp
NM_000329.2:c.1541C>A	NP_000320.1:p.Ala514Asp
XM_017002027.1:c.1265C>A	XP_016857516.1:p.Ala422Asp
NM_000329.3:c.1541C>A MANE Select	NP_000320.1:p.Ala514Asp