Canonical Allele Identifier: CA418282894
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910460T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444777T>G , CM000663.2:g.68444777T>G GRCh38
NC_000001.10:g.68910460T>G , CM000663.1:g.68910460T>G GRCh37
NC_000001.9:g.68683048T>G NCBI36
NG_008472.1:g.10183A>C
NG_008472.2:g.10183A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.352A>C MANE Select ENSP00000262340.5:p.Arg118=
ENST00000262340.5:c.352A>C ENSP00000262340.5:p.Arg118=
NM_000329.2:c.352A>C NP_000320.1:p.Arg118=
XM_017002027.1:c.76A>C XP_016857516.1:p.Arg26=
NM_000329.3:c.352A>C MANE Select NP_000320.1:p.Arg118=