Canonical Allele Identifier: CA418282725

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910301G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444618G>C , CM000663.2:g.68444618G>C	GRCh38
NC_000001.10:g.68910301G>C , CM000663.1:g.68910301G>C	GRCh37
NC_000001.9:g.68682889G>C	NCBI36
NG_008472.1:g.10342C>G
NG_008472.2:g.10342C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.408C>G MANE Select	ENSP00000262340.5:p.Val136=
ENST00000262340.5:c.408C>G	ENSP00000262340.5:p.Val136=
NM_000329.2:c.408C>G	NP_000320.1:p.Val136=
XM_017002027.1:c.132C>G	XP_016857516.1:p.Val44=
NM_000329.3:c.408C>G MANE Select	NP_000320.1:p.Val136=