Canonical Allele Identifier: CA340747913

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68910315C>A (hg19) ; chr1:g.68444632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68444632C>A , CM000663.2:g.68444632C>A	GRCh38
NC_000001.10:g.68910315C>A , CM000663.1:g.68910315C>A	GRCh37
NC_000001.9:g.68682903C>A	NCBI36
NG_008472.1:g.10328G>T
NG_008472.2:g.10328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262340.6:c.394G>T MANE Select	ENSP00000262340.5:p.Ala132Ser
ENST00000262340.5:c.394G>T	ENSP00000262340.5:p.Ala132Ser
NM_000329.2:c.394G>T	NP_000320.1:p.Ala132Ser
XM_017002027.1:c.118G>T	XP_016857516.1:p.Ala40Ser
NM_000329.3:c.394G>T MANE Select	NP_000320.1:p.Ala132Ser