Canonical Allele Identifier: CA340744760
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68904671A>G (hg19) chr1:g.68438988A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438988A>G , CM000663.2:g.68438988A>G GRCh38
NC_000001.10:g.68904671A>G , CM000663.1:g.68904671A>G GRCh37
NC_000001.9:g.68677259A>G NCBI36
NG_008472.1:g.15972T>C
NG_008472.2:g.15972T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.952T>C MANE Select ENSP00000262340.5:p.Tyr318His
ENST00000262340.5:c.952T>C ENSP00000262340.5:p.Tyr318His
NM_000329.2:c.952T>C NP_000320.1:p.Tyr318His
XM_017002027.1:c.676T>C XP_016857516.1:p.Tyr226His
NM_000329.3:c.952T>C MANE Select NP_000320.1:p.Tyr318His
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