Canonical Allele Identifier: CA340744438
Gene: RPE65 HGNC NCBI

Linked Data

dbSNP Id: rs1645875424
MyVariant Identifiers: chr1:g.68903986A>C (hg19) chr1:g.68438303A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438303A>C , CM000663.2:g.68438303A>C GRCh38
NC_000001.10:g.68903986A>C , CM000663.1:g.68903986A>C GRCh37
NC_000001.9:g.68676574A>C NCBI36
NG_008472.1:g.16657T>G
NG_008472.2:g.16657T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1012T>G MANE Select ENSP00000262340.5:p.Tyr338Asp
ENST00000262340.5:c.1012T>G ENSP00000262340.5:p.Tyr338Asp
NM_000329.2:c.1012T>G NP_000320.1:p.Tyr338Asp
XM_017002027.1:c.736T>G XP_016857516.1:p.Tyr246Asp
NM_000329.3:c.1012T>G MANE Select NP_000320.1:p.Tyr338Asp
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