Canonical Allele Identifier: CA418279140
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68903918A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438235A>G , CM000663.2:g.68438235A>G GRCh38
NC_000001.10:g.68903918A>G , CM000663.1:g.68903918A>G GRCh37
NC_000001.9:g.68676506A>G NCBI36
NG_008472.1:g.16725T>C
NG_008472.2:g.16725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1080T>C MANE Select ENSP00000262340.5:p.Ala360=
ENST00000262340.5:c.1080T>C ENSP00000262340.5:p.Ala360=
NM_000329.2:c.1080T>C NP_000320.1:p.Ala360=
XM_017002027.1:c.804T>C XP_016857516.1:p.Ala268=
NM_000329.3:c.1080T>C MANE Select NP_000320.1:p.Ala360=