Canonical Allele Identifier: CA340744397

Gene: RPE65

Linked Data

• COSMIC: COSM263430
• MyVariant Identifiers: chr1:g.68903978G>T (hg19) ; chr1:g.68438295G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68438295G>T , CM000663.2:g.68438295G>T	GRCh38
NC_000001.10:g.68903978G>T , CM000663.1:g.68903978G>T	GRCh37
NC_000001.9:g.68676566G>T	NCBI36
NG_008472.1:g.16665C>A
NG_008472.2:g.16665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.1020C>A MANE Select	ENSP00000262340.5:p.Tyr340Ter
ENST00000262340.5:c.1020C>A	ENSP00000262340.5:p.Tyr340Ter
NM_000329.2:c.1020C>A	NP_000320.1:p.Tyr340Ter
XM_017002027.1:c.744C>A	XP_016857516.1:p.Tyr248Ter
NM_000329.3:c.1020C>A MANE Select	NP_000320.1:p.Tyr340Ter