Canonical Allele Identifier: CA418277567
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1204978347
gnomAD v2: 1-68896851-C-T
MyVariant Identifiers: chr1:g.68896851C>T (hg19) chr1:g.68431168C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431168C>T , CM000663.2:g.68431168C>T GRCh38
NC_000001.10:g.68896851C>T , CM000663.1:g.68896851C>T GRCh37
NC_000001.9:g.68669439C>T NCBI36
NG_008472.1:g.23792G>A
NG_008472.2:g.23792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1347G>A MANE Select ENSP00000262340.5:p.Lys449=
ENST00000262340.5:c.1347G>A ENSP00000262340.5:p.Lys449=
NM_000329.2:c.1347G>A NP_000320.1:p.Lys449=
XM_017002027.1:c.1071G>A XP_016857516.1:p.Lys357=
NM_000329.3:c.1347G>A MANE Select NP_000320.1:p.Lys449=
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