Canonical Allele Identifier: CA340742264
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1311204202
gnomAD v2: 1-68896847-T-A
MyVariant Identifiers: chr1:g.68896847T>A (hg19) chr1:g.68431164T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431164T>A , CM000663.2:g.68431164T>A GRCh38
NC_000001.10:g.68896847T>A , CM000663.1:g.68896847T>A GRCh37
NC_000001.9:g.68669435T>A NCBI36
NG_008472.1:g.23796A>T
NG_008472.2:g.23796A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1351A>T MANE Select ENSP00000262340.5:p.Asn451Tyr
ENST00000262340.5:c.1351A>T ENSP00000262340.5:p.Asn451Tyr
NM_000329.2:c.1351A>T NP_000320.1:p.Asn451Tyr
XM_017002027.1:c.1075A>T XP_016857516.1:p.Asn359Tyr
NM_000329.3:c.1351A>T MANE Select NP_000320.1:p.Asn451Tyr
Search 100 bp 5'
Search 100 bp 3'