Canonical Allele Identifier: CA340747695
Gene: RPE65 HGNC NCBI

Linked Data

gnomAD v4: 1-68444584-C-G
MyVariant Identifiers: chr1:g.68910267C>G (hg19) chr1:g.68444584C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262340.6:c.442G>C MANE Select ENSP00000262340.5:p.Glu148Gln
ENST00000262340.5:c.442G>C ENSP00000262340.5:p.Glu148Gln
NM_000329.2:c.442G>C NP_000320.1:p.Glu148Gln
XM_017002027.1:c.166G>C XP_016857516.1:p.Glu56Gln
NM_000329.3:c.442G>C MANE Select NP_000320.1:p.Glu148Gln
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