Canonical Allele Identifier: CA340741061
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429838-C-T
MyVariant Identifiers: chr1:g.68895521C>T (hg19) chr1:g.68429838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429838C>T , CM000663.2:g.68429838C>T GRCh38
NC_000001.10:g.68895521C>T , CM000663.1:g.68895521C>T GRCh37
NC_000001.9:g.68668109C>T NCBI36
NG_008472.1:g.25122G>A
NG_008472.2:g.25122G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1540G>A MANE Select ENSP00000262340.5:p.Ala514Thr
ENST00000262340.5:c.1540G>A ENSP00000262340.5:p.Ala514Thr
NM_000329.2:c.1540G>A NP_000320.1:p.Ala514Thr
XM_017002027.1:c.1264G>A XP_016857516.1:p.Ala422Thr
NM_000329.3:c.1540G>A MANE Select NP_000320.1:p.Ala514Thr
Search 100 bp 5'
Search 100 bp 3'