Canonical Allele Identifier: CA340747924

Gene: RPE65

Linked Data

• COSMIC: COSM4966088
• MyVariant Identifiers: chr1:g.68910320T>C (hg19) ; chr1:g.68444637T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444637T>C , CM000663.2:g.68444637T>C	GRCh38
NC_000001.10:g.68910320T>C , CM000663.1:g.68910320T>C	GRCh37
NC_000001.9:g.68682908T>C	NCBI36
NG_008472.1:g.10323A>G
NG_008472.2:g.10323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.389A>G MANE Select	ENSP00000262340.5:p.Asp130Gly
ENST00000262340.5:c.389A>G	ENSP00000262340.5:p.Asp130Gly
NM_000329.2:c.389A>G	NP_000320.1:p.Asp130Gly
XM_017002027.1:c.113A>G	XP_016857516.1:p.Asp38Gly
NM_000329.3:c.389A>G MANE Select	NP_000320.1:p.Asp130Gly