Canonical Allele Identifier: CA340741030

Gene: RPE65

Linked Data

• MyVariant Identifiers: chr1:g.68895514G>A (hg19) ; chr1:g.68429831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.68429831G>A , CM000663.2:g.68429831G>A	GRCh38
NC_000001.10:g.68895514G>A , CM000663.1:g.68895514G>A	GRCh37
NC_000001.9:g.68668102G>A	NCBI36
NG_008472.1:g.25129C>T
NG_008472.2:g.25129C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262340.6:c.1547C>T MANE Select	ENSP00000262340.5:p.Ala516Val
ENST00000262340.5:c.1547C>T	ENSP00000262340.5:p.Ala516Val
NM_000329.2:c.1547C>T	NP_000320.1:p.Ala516Val
XM_017002027.1:c.1271C>T	XP_016857516.1:p.Ala424Val
NM_000329.3:c.1547C>T MANE Select	NP_000320.1:p.Ala516Val