Canonical Allele Identifier: CA902238
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs751514302
ExAC: 1:68897116 G / A
gnomAD v2: 1-68897116-G-A
gnomAD v4: 1-68431433-G-A
MyVariant Identifiers: chr1:g.68897116G>A (hg19) chr1:g.68431433G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431433G>A , CM000663.2:g.68431433G>A GRCh38
NC_000001.10:g.68897116G>A , CM000663.1:g.68897116G>A GRCh37
NC_000001.9:g.68669704G>A NCBI36
NG_008472.1:g.23527C>T
NG_008472.2:g.23527C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1243+38C>T MANE Select ENSP00000262340.5:n.1243+38C>T
ENST00000262340.5:c.1243+38C>T ENSP00000262340.5:n.1243+38C>T
NM_000329.2:c.1243+38C>T NP_000320.1:n.1243+38C>T
XM_017002027.1:c.967+38C>T XP_016857516.1:n.967+38C>T
NM_000329.3:c.1243+38C>T MANE Select NP_000320.1:n.1243+38C>T
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