Canonical Allele Identifier: CA2133588378
Gene: PRPF39 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.45113008A= , CM000676.2:g.45113008A= GRCh38
NC_000014.8:g.45582211A= , CM000676.1:g.45582211A= GRCh37
NC_000014.7:g.44651961A= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000355765.11:c.1757+506A= MANE Select ENSP00000348010.6:n.1757+506A=
ENST00000355765.10:c.1757+506A= ENSP00000348010.6:n.1757+506A=
ENST00000424478.5:c.*1633+506A= ENSP00000390867.1:n.*1633+506A=
ENST00000477626.5:n.2566+506A=
ENST00000554081.5:c.1601+506A=
ENST00000554429.5:c.*1576+506A= ENSP00000451331.1:n.*1576+506A=
ENST00000554439.5:c.*1530+506A= ENSP00000451334.1:n.*1530+506A=
ENST00000554785.1:n.943+506A=
NM_017922.3:c.1757+506A= NP_060392.3:n.1757+506A=
NM_017922.4:c.1757+506A= MANE Select NP_060392.3:n.1757+506A=
Search 100 bp 5'
Search 100 bp 3'