Canonical Allele Identifier: CA340747759
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs767528365
gnomAD v3: 1-68444593-C-A
gnomAD v4: 1-68444593-C-A
MyVariant Identifiers: chr1:g.68910276C>A (hg19) chr1:g.68444593C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444593C>A , CM000663.2:g.68444593C>A GRCh38
NC_000001.10:g.68910276C>A , CM000663.1:g.68910276C>A GRCh37
NC_000001.9:g.68682864C>A NCBI36
NG_008472.1:g.10367G>T
NG_008472.2:g.10367G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.433G>T MANE Select ENSP00000262340.5:p.Ala145Ser
ENST00000262340.5:c.433G>T ENSP00000262340.5:p.Ala145Ser
NM_000329.2:c.433G>T NP_000320.1:p.Ala145Ser
XM_017002027.1:c.157G>T XP_016857516.1:p.Ala53Ser
NM_000329.3:c.433G>T MANE Select NP_000320.1:p.Ala145Ser
Search 100 bp 5'
Search 100 bp 3'