Canonical Allele Identifier: CA2133588358
Gene: PRPF39 HGNC NCBI

Linked Data

dbSNP Id: rs1884737252
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45112974A>G , CM000676.2:g.45112974A>G GRCh38
NC_000014.8:g.45582177A>G , CM000676.1:g.45582177A>G GRCh37
NC_000014.7:g.44651927A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000355765.11:c.1757+472A>G MANE Select ENSP00000348010.6:n.1757+472A>G
ENST00000355765.10:c.1757+472A>G ENSP00000348010.6:n.1757+472A>G
ENST00000424478.5:c.*1633+472A>G ENSP00000390867.1:n.*1633+472A>G
ENST00000477626.5:n.2566+472A>G
ENST00000554081.5:c.1601+472A>G
ENST00000554429.5:c.*1576+472A>G ENSP00000451331.1:n.*1576+472A>G
ENST00000554439.5:c.*1530+472A>G ENSP00000451334.1:n.*1530+472A>G
ENST00000554785.1:n.943+472A>G
NM_017922.3:c.1757+472A>G NP_060392.3:n.1757+472A>G
NM_017922.4:c.1757+472A>G MANE Select NP_060392.3:n.1757+472A>G
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