Canonical Allele Identifier: CA2547738653

Gene: PRPF39

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.45113013C>A , CM000676.2:g.45113013C>A	GRCh38
NC_000014.8:g.45582216C>A , CM000676.1:g.45582216C>A	GRCh37
NC_000014.7:g.44651966C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000355765.11:c.1757+511C>A MANE Select	ENSP00000348010.6:n.1757+511C>A
ENST00000355765.10:c.1757+511C>A	ENSP00000348010.6:n.1757+511C>A
ENST00000424478.5:c.*1633+511C>A	ENSP00000390867.1:n.*1633+511C>A
ENST00000477626.5:n.2566+511C>A
ENST00000554081.5:c.1601+511C>A
ENST00000554429.5:c.*1576+511C>A	ENSP00000451331.1:n.*1576+511C>A
ENST00000554439.5:c.*1530+511C>A	ENSP00000451334.1:n.*1530+511C>A
ENST00000554785.1:n.943+511C>A
NM_017922.3:c.1757+511C>A	NP_060392.3:n.1757+511C>A
NM_017922.4:c.1757+511C>A MANE Select	NP_060392.3:n.1757+511C>A