Canonical Allele Identifier: CA389581463

Gene: PRPF39

Linked Data

• ClinVar Variation Id: 2270170
• ClinVar RCV Id: RCV004127628
• gnomAD v4: 14-45110103-T-C
• MyVariant Identifiers: chr14:g.45579306T>C (hg19) ; chr14:g.45110103T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45110103T>C , CM000676.2:g.45110103T>C	GRCh38
NC_000014.8:g.45579306T>C , CM000676.1:g.45579306T>C	GRCh37
NC_000014.7:g.44649056T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355765.11:c.1186T>C MANE Select	ENSP00000348010.6:p.Tyr396His
ENST00000355765.10:c.1186T>C	ENSP00000348010.6:p.Tyr396His
ENST00000424478.5:c.*1062T>C	ENSP00000390867.1:n.*1062T>C
ENST00000477626.5:n.1995T>C
ENST00000554081.5:c.1030T>C
ENST00000554429.5:c.*1059T>C	ENSP00000451331.1:n.*1059T>C
ENST00000554439.5:c.*959T>C	ENSP00000451334.1:n.*959T>C
ENST00000554785.1:n.372T>C
ENST00000556718.1:n.261T>C
ENST00000557477.1:c.651T>C
NM_017922.3:c.1186T>C	NP_060392.3:p.Tyr396His
NM_017922.4:c.1186T>C MANE Select	NP_060392.3:p.Tyr396His