Canonical Allele Identifier: CA418282711

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910289C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444606C>A , CM000663.2:g.68444606C>A	GRCh38
NC_000001.10:g.68910289C>A , CM000663.1:g.68910289C>A	GRCh37
NC_000001.9:g.68682877C>A	NCBI36
NG_008472.1:g.10354G>T
NG_008472.2:g.10354G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.420G>T MANE Select	ENSP00000262340.5:p.Gly140=
ENST00000262340.5:c.420G>T	ENSP00000262340.5:p.Gly140=
NM_000329.2:c.420G>T	NP_000320.1:p.Gly140=
XM_017002027.1:c.144G>T	XP_016857516.1:p.Gly48=
NM_000329.3:c.420G>T MANE Select	NP_000320.1:p.Gly140=