Canonical Allele Identifier: CA340742354
Gene: RPE65 HGNC NCBI

Linked Data

ClinVar Variation Id: 427864
ClinVar RCV Id: RCV003766756
dbSNP Id: rs1420672586
gnomAD v2: 1-68896965-C-A
gnomAD v3: 1-68431282-C-A
gnomAD v4: 1-68431282-C-A
MyVariant Identifiers: chr1:g.68896965C>A (hg19) chr1:g.68431282C>A (hg38)
ERepo: CA340742354/MONDO:0100368/120
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431282C>A , CM000663.2:g.68431282C>A GRCh38
NC_000001.10:g.68896965C>A , CM000663.1:g.68896965C>A GRCh37
NC_000001.9:g.68669553C>A NCBI36
NG_008472.1:g.23678G>T
NG_008472.2:g.23678G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.1338G>T MANE Select ENSP00000262340.5:p.Arg446Ser
ENST00000262340.5:c.1338G>T ENSP00000262340.5:p.Arg446Ser
NM_000329.2:c.1338G>T NP_000320.1:p.Arg446Ser
XM_017002027.1:c.1062G>T XP_016857516.1:p.Arg354Ser
NM_000329.3:c.1338G>T MANE Select NP_000320.1:p.Arg446Ser
Search 100 bp 5'
Search 100 bp 3'