Canonical Allele Identifier: CA340748955

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68912426T>A (hg19) ; chr1:g.68446743T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68446743T>A , CM000663.2:g.68446743T>A	GRCh38
NC_000001.10:g.68912426T>A , CM000663.1:g.68912426T>A	GRCh37
NC_000001.9:g.68685014T>A	NCBI36
NG_008472.1:g.8217A>T
NG_008472.2:g.8217A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.212A>T MANE Select	ENSP00000262340.5:p.Asp71Val
ENST00000262340.5:c.212A>T	ENSP00000262340.5:p.Asp71Val
NM_000329.2:c.212A>T	NP_000320.1:p.Asp71Val
XM_017002027.1:c.-31-1860A>T	XP_016857516.1:n.-31-1860A>T
NM_000329.3:c.212A>T MANE Select	NP_000320.1:p.Asp71Val