Canonical Allele Identifier: CA418276175
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895528A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429845A>G , CM000663.2:g.68429845A>G GRCh38
NC_000001.10:g.68895528A>G , CM000663.1:g.68895528A>G GRCh37
NC_000001.9:g.68668116A>G NCBI36
NG_008472.1:g.25115T>C
NG_008472.2:g.25115T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1533T>C MANE Select ENSP00000262340.5:p.Ser511=
ENST00000262340.5:c.1533T>C ENSP00000262340.5:p.Ser511=
NM_000329.2:c.1533T>C NP_000320.1:p.Ser511=
XM_017002027.1:c.1257T>C XP_016857516.1:p.Ser419=
NM_000329.3:c.1533T>C MANE Select NP_000320.1:p.Ser511=