Canonical Allele Identifier: CA340747683
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910265C>G (hg19) chr1:g.68444582C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444582C>G , CM000663.2:g.68444582C>G GRCh38
NC_000001.10:g.68910265C>G , CM000663.1:g.68910265C>G GRCh37
NC_000001.9:g.68682853C>G NCBI36
NG_008472.1:g.10378G>C
NG_008472.2:g.10378G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.444G>C MANE Select ENSP00000262340.5:p.Glu148Asp
ENST00000262340.5:c.444G>C ENSP00000262340.5:p.Glu148Asp
NM_000329.2:c.444G>C NP_000320.1:p.Glu148Asp
XM_017002027.1:c.168G>C XP_016857516.1:p.Glu56Asp
NM_000329.3:c.444G>C MANE Select NP_000320.1:p.Glu148Asp
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