Canonical Allele Identifier: CA340742470
Gene: RPE65 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431316T>G , CM000663.2:g.68431316T>G GRCh38
NC_000001.10:g.68896999T>G , CM000663.1:g.68896999T>G GRCh37
NC_000001.9:g.68669587T>G NCBI36
NG_008472.1:g.23644A>C
NG_008472.2:g.23644A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1304A>C MANE Select ENSP00000262340.5:p.Tyr435Ser
ENST00000262340.5:c.1304A>C ENSP00000262340.5:p.Tyr435Ser
NM_000329.2:c.1304A>C NP_000320.1:p.Tyr435Ser
XM_017002027.1:c.1028A>C XP_016857516.1:p.Tyr343Ser
NM_000329.3:c.1304A>C MANE Select NP_000320.1:p.Tyr435Ser