Canonical Allele Identifier: CA340744759
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68904671A>C (hg19) chr1:g.68438988A>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.952T>G MANE Select ENSP00000262340.5:p.Tyr318Asp
ENST00000262340.5:c.952T>G ENSP00000262340.5:p.Tyr318Asp
NM_000329.2:c.952T>G NP_000320.1:p.Tyr318Asp
XM_017002027.1:c.676T>G XP_016857516.1:p.Tyr226Asp
NM_000329.3:c.952T>G MANE Select NP_000320.1:p.Tyr318Asp
Search 100 bp 5'
Search 100 bp 3'