Canonical Allele Identifier: CA340747548
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910245A>C (hg19) chr1:g.68444562A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444562A>C , CM000663.2:g.68444562A>C GRCh38
NC_000001.10:g.68910245A>C , CM000663.1:g.68910245A>C GRCh37
NC_000001.9:g.68682833A>C NCBI36
NG_008472.1:g.10398T>G
NG_008472.2:g.10398T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.464T>G MANE Select ENSP00000262340.5:p.Ile155Ser
ENST00000262340.5:c.464T>G ENSP00000262340.5:p.Ile155Ser
NM_000329.2:c.464T>G NP_000320.1:p.Ile155Ser
XM_017002027.1:c.188T>G XP_016857516.1:p.Ile63Ser
NM_000329.3:c.464T>G MANE Select NP_000320.1:p.Ile155Ser
Search 100 bp 5'
Search 100 bp 3'