Canonical Allele Identifier: CA418276342
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68895564A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68429881A>C , CM000663.2:g.68429881A>C GRCh38
NC_000001.10:g.68895564A>C , CM000663.1:g.68895564A>C GRCh37
NC_000001.9:g.68668152A>C NCBI36
NG_008472.1:g.25079T>G
NG_008472.2:g.25079T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1497T>G MANE Select ENSP00000262340.5:p.Pro499=
ENST00000262340.5:c.1497T>G ENSP00000262340.5:p.Pro499=
NM_000329.2:c.1497T>G NP_000320.1:p.Pro499=
XM_017002027.1:c.1221T>G XP_016857516.1:p.Pro407=
NM_000329.3:c.1497T>G MANE Select NP_000320.1:p.Pro499=