Canonical Allele Identifier: CA340744749

Gene: RPE65

Linked Data

• gnomAD v4: 1-68438985-C-T
• MyVariant Identifiers: chr1:g.68904668C>T (hg19) ; chr1:g.68438985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438985C>T , CM000663.2:g.68438985C>T	GRCh38
NC_000001.10:g.68904668C>T , CM000663.1:g.68904668C>T	GRCh37
NC_000001.9:g.68677256C>T	NCBI36
NG_008472.1:g.15975G>A
NG_008472.2:g.15975G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.955G>A MANE Select	ENSP00000262340.5:p.Glu319Lys
ENST00000262340.5:c.955G>A	ENSP00000262340.5:p.Glu319Lys
NM_000329.2:c.955G>A	NP_000320.1:p.Glu319Lys
XM_017002027.1:c.679G>A	XP_016857516.1:p.Glu227Lys
NM_000329.3:c.955G>A MANE Select	NP_000320.1:p.Glu319Lys