Canonical Allele Identifier: CA340747867
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910293A>G (hg19) chr1:g.68444610A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444610A>G , CM000663.2:g.68444610A>G GRCh38
NC_000001.10:g.68910293A>G , CM000663.1:g.68910293A>G GRCh37
NC_000001.9:g.68682881A>G NCBI36
NG_008472.1:g.10350T>C
NG_008472.2:g.10350T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.416T>C MANE Select ENSP00000262340.5:p.Val139Ala
ENST00000262340.5:c.416T>C ENSP00000262340.5:p.Val139Ala
NM_000329.2:c.416T>C NP_000320.1:p.Val139Ala
XM_017002027.1:c.140T>C XP_016857516.1:p.Val47Ala
NM_000329.3:c.416T>C MANE Select NP_000320.1:p.Val139Ala
Search 100 bp 5'
Search 100 bp 3'