Canonical Allele Identifier: CA738201999
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1318133147
MyVariant Identifiers: chr1:g.68905181G>T (hg19) chr1:g.68439498G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68439498G>T , CM000663.2:g.68439498G>T GRCh38
NC_000001.10:g.68905181G>T , CM000663.1:g.68905181G>T GRCh37
NC_000001.9:g.68677769G>T NCBI36
NG_008472.1:g.15462C>A
NG_008472.2:g.15462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.725+63C>A MANE Select ENSP00000262340.5:n.725+63C>A
ENST00000262340.5:c.725+63C>A ENSP00000262340.5:n.725+63C>A
NM_000329.2:c.725+63C>A NP_000320.1:n.725+63C>A
XM_017002027.1:c.449+63C>A XP_016857516.1:n.449+63C>A
NM_000329.3:c.725+63C>A MANE Select NP_000320.1:n.725+63C>A
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