Canonical Allele Identifier: CA340742802
Gene: RPE65 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.68897155T>G (hg19) chr1:g.68431472T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.68431472T>G , CM000663.2:g.68431472T>G GRCh38
NC_000001.10:g.68897155T>G , CM000663.1:g.68897155T>G GRCh37
NC_000001.9:g.68669743T>G NCBI36
NG_008472.1:g.23488A>C
NG_008472.2:g.23488A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262340.6:c.1242A>C MANE Select ENSP00000262340.5:p.Gln414His
ENST00000262340.5:c.1242A>C ENSP00000262340.5:p.Gln414His
NM_000329.2:c.1242A>C NP_000320.1:p.Gln414His
XM_017002027.1:c.966A>C XP_016857516.1:p.Gln322His
NM_000329.3:c.1242A>C MANE Select NP_000320.1:p.Gln414His
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