Canonical Allele Identifier: CA340741071
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895524C>G (hg19) chr1:g.68429841C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429841C>G , CM000663.2:g.68429841C>G GRCh38
NC_000001.10:g.68895524C>G , CM000663.1:g.68895524C>G GRCh37
NC_000001.9:g.68668112C>G NCBI36
NG_008472.1:g.25119G>C
NG_008472.2:g.25119G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1537G>C MANE Select ENSP00000262340.5:p.Val513Leu
ENST00000262340.5:c.1537G>C ENSP00000262340.5:p.Val513Leu
NM_000329.2:c.1537G>C NP_000320.1:p.Val513Leu
XM_017002027.1:c.1261G>C XP_016857516.1:p.Val421Leu
NM_000329.3:c.1537G>C MANE Select NP_000320.1:p.Val513Leu
Search 100 bp 5'
Search 100 bp 3'