Canonical Allele Identifier: CA2499225599

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54129939C>G , CM000681.2:g.54129939C>G	GRCh38
NC_000019.8:g.59325126C>G	NCBI36
NG_009759.1:g.19525C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.1374+569C>G MANE Select	NP_056444.3:n.1374+569C>G
ENST00000321030.9:c.1374+569C>G MANE Select	ENSP00000324122.4:n.1374+569C>G
NM_015629.3:c.1374+569C>G	NP_056444.3:n.1374+569C>G
ENST00000321030.8:c.1374+569C>G	ENSP00000324122.4:n.1374+569C>G
ENST00000391755.1:c.1356+569C>G	ENSP00000375635.1:n.1356+569C>G
ENST00000419967.5:c.1460+569C>G	ENSP00000405166.2:n.1460+569C>G
ENST00000466404.5:n.1434+569C>G
XM_006723137.2:c.1374+569C>G	XP_006723200.1:n.1374+569C>G
XM_006723137.4:c.1374+569C>G	XP_006723200.1:n.1374+569C>G
XR_002958293.1:n.1618+569C>G
XR_935789.1:n.1451+569C>G
XR_935789.3:n.1463+569C>G