Canonical Allele Identifier: CA407749015

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54121858A>G , CM000681.2:g.54121858A>G	GRCh38
NC_000019.8:g.59317049A>G	NCBI36
NG_009759.1:g.11448A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.239-2A>G MANE Select	NP_056444.3:n.239-2A>G
ENST00000321030.9:c.239-2A>G MANE Select	ENSP00000324122.4:n.239-2A>G
NM_015629.3:c.239-2A>G	NP_056444.3:n.239-2A>G
ENST00000321030.8:c.239-2A>G	ENSP00000324122.4:n.239-2A>G
ENST00000391755.1:c.239-2A>G	ENSP00000375635.1:n.239-2A>G
ENST00000419967.5:c.239-2A>G	ENSP00000405166.2:n.239-2A>G
ENST00000445124.5:c.239-2A>G	ENSP00000408980.1:n.239-2A>G
ENST00000445811.5:c.239-2A>G	ENSP00000395894.1:n.239-2A>G
ENST00000447810.5:c.239-2A>G	ENSP00000395089.1:n.239-2A>G
ENST00000466404.5:n.109-2A>G
ENST00000498612.1:n.22-2A>G
XM_006723137.2:c.239-2A>G	XP_006723200.1:n.239-2A>G
XM_006723137.4:c.239-2A>G	XP_006723200.1:n.239-2A>G
XR_002958293.1:n.369-2A>G
XR_935789.1:n.288-2A>G
XR_935789.3:n.300-2A>G