Canonical Allele Identifier: CA523301922
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1358601935
gnomAD v2: 1-68910369-T-A
gnomAD v3: 1-68444686-T-A
gnomAD v4: 1-68444686-T-A
MyVariant Identifiers: chr1:g.68910369T>A (hg19) chr1:g.68444686T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444686T>A , CM000663.2:g.68444686T>A GRCh38
NC_000001.10:g.68910369T>A , CM000663.1:g.68910369T>A GRCh37
NC_000001.9:g.68682957T>A NCBI36
NG_008472.1:g.10274A>T
NG_008472.2:g.10274A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.354-14A>T MANE Select ENSP00000262340.5:n.354-14A>T
ENST00000262340.5:c.354-14A>T ENSP00000262340.5:n.354-14A>T
NM_000329.2:c.354-14A>T NP_000320.1:n.354-14A>T
XM_017002027.1:c.78-14A>T XP_016857516.1:n.78-14A>T
NM_000329.3:c.354-14A>T MANE Select NP_000320.1:n.354-14A>T
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