Canonical Allele Identifier: CA418276129
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895513A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429830A>C , CM000663.2:g.68429830A>C GRCh38
NC_000001.10:g.68895513A>C , CM000663.1:g.68895513A>C GRCh37
NC_000001.9:g.68668101A>C NCBI36
NG_008472.1:g.25130T>G
NG_008472.2:g.25130T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1548T>G MANE Select ENSP00000262340.5:p.Ala516=
ENST00000262340.5:c.1548T>G ENSP00000262340.5:p.Ala516=
NM_000329.2:c.1548T>G NP_000320.1:p.Ala516=
XM_017002027.1:c.1272T>G XP_016857516.1:p.Ala424=
NM_000329.3:c.1548T>G MANE Select NP_000320.1:p.Ala516=
Search 100 bp 5'
Search 100 bp 3'