Canonical Allele Identifier: CA407751960

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54126619T>G , CM000681.2:g.54126619T>G	GRCh38
NC_000019.8:g.59321806T>G	NCBI36
NG_009759.1:g.16205T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.945+2T>G MANE Select	NP_056444.3:n.945+2T>G
ENST00000321030.9:c.945+2T>G MANE Select	ENSP00000324122.4:n.945+2T>G
NM_015629.3:c.945+2T>G	NP_056444.3:n.945+2T>G
ENST00000321030.8:c.945+2T>G	ENSP00000324122.4:n.945+2T>G
ENST00000391755.1:c.945+2T>G	ENSP00000375635.1:n.945+2T>G
ENST00000419967.5:c.945+2T>G	ENSP00000405166.2:n.945+2T>G
ENST00000466404.5:n.815+2T>G
ENST00000498612.1:n.756+2T>G
XM_006723137.2:c.945+2T>G	XP_006723200.1:n.945+2T>G
XM_006723137.4:c.945+2T>G	XP_006723200.1:n.945+2T>G
XR_002958293.1:n.1103+2T>G
XR_935789.1:n.1022+2T>G
XR_935789.3:n.1034+2T>G