Canonical Allele Identifier: CA340747894
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68444622-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444622T>G , CM000663.2:g.68444622T>G GRCh38
NC_000001.10:g.68910305T>G , CM000663.1:g.68910305T>G GRCh37
NC_000001.9:g.68682893T>G NCBI36
NG_008472.1:g.10338A>C
NG_008472.2:g.10338A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.404A>C MANE Select ENSP00000262340.5:p.Asn135Thr
ENST00000262340.5:c.404A>C ENSP00000262340.5:p.Asn135Thr
NM_000329.2:c.404A>C NP_000320.1:p.Asn135Thr
XM_017002027.1:c.128A>C XP_016857516.1:p.Asn43Thr
NM_000329.3:c.404A>C MANE Select NP_000320.1:p.Asn135Thr