Canonical Allele Identifier: CA340744446
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68903988A>T (hg19) chr1:g.68438305A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68438305A>T , CM000663.2:g.68438305A>T GRCh38
NC_000001.10:g.68903988A>T , CM000663.1:g.68903988A>T GRCh37
NC_000001.9:g.68676576A>T NCBI36
NG_008472.1:g.16655T>A
NG_008472.2:g.16655T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1010T>A MANE Select ENSP00000262340.5:p.Val337Asp
ENST00000262340.5:c.1010T>A ENSP00000262340.5:p.Val337Asp
NM_000329.2:c.1010T>A NP_000320.1:p.Val337Asp
XM_017002027.1:c.734T>A XP_016857516.1:p.Val245Asp
NM_000329.3:c.1010T>A MANE Select NP_000320.1:p.Val337Asp
Search 100 bp 5'
Search 100 bp 3'