Canonical Allele Identifier: CA340747693
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68910267C>A (hg19) chr1:g.68444584C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68444584C>A , CM000663.2:g.68444584C>A GRCh38
NC_000001.10:g.68910267C>A , CM000663.1:g.68910267C>A GRCh37
NC_000001.9:g.68682855C>A NCBI36
NG_008472.1:g.10376G>T
NG_008472.2:g.10376G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.442G>T MANE Select ENSP00000262340.5:p.Glu148Ter
ENST00000262340.5:c.442G>T ENSP00000262340.5:p.Glu148Ter
NM_000329.2:c.442G>T NP_000320.1:p.Glu148Ter
XM_017002027.1:c.166G>T XP_016857516.1:p.Glu56Ter
NM_000329.3:c.442G>T MANE Select NP_000320.1:p.Glu148Ter
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