Canonical Allele Identifier: CA340741025

Gene: RPE65

Linked Data

• COSMIC: COSM426641
• MyVariant Identifiers: chr1:g.68895512C>A (hg19) ; chr1:g.68429829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429829C>A , CM000663.2:g.68429829C>A	GRCh38
NC_000001.10:g.68895512C>A , CM000663.1:g.68895512C>A	GRCh37
NC_000001.9:g.68668100C>A	NCBI36
NG_008472.1:g.25131G>T
NG_008472.2:g.25131G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1549G>T MANE Select	ENSP00000262340.5:p.Glu517Ter
ENST00000262340.5:c.1549G>T	ENSP00000262340.5:p.Glu517Ter
NM_000329.2:c.1549G>T	NP_000320.1:p.Glu517Ter
XM_017002027.1:c.1273G>T	XP_016857516.1:p.Glu425Ter
NM_000329.3:c.1549G>T MANE Select	NP_000320.1:p.Glu517Ter