Canonical Allele Identifier: CA2646149656
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68429715-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429715T>A , CM000663.2:g.68429715T>A GRCh38
NC_000001.10:g.68895398T>A , CM000663.1:g.68895398T>A GRCh37
NC_000001.9:g.68667986T>A NCBI36
NG_008472.1:g.25245A>T
NG_008472.2:g.25245A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.*61A>T MANE Select ENSP00000262340.5:n.*61A>T
ENST00000262340.5:c.*61A>T ENSP00000262340.5:n.*61A>T
NM_000329.2:c.*61A>T NP_000320.1:n.*61A>T
XM_017002027.1:c.*61A>T XP_016857516.1:n.*61A>T
NM_000329.3:c.*61A>T MANE Select NP_000320.1:n.*61A>T