Canonical Allele Identifier: CA309332428

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54131441G>A , CM000681.2:g.54131441G>A	GRCh38
NC_000019.8:g.59326684G>A	NCBI36
NG_009759.1:g.21083G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.*9G>A MANE Select	NP_056444.3:n.*9G>A
ENST00000321030.9:c.*9G>A MANE Select	ENSP00000324122.4:n.*9G>A
NM_015629.3:c.*9G>A	NP_056444.3:n.*9G>A
ENST00000321030.8:c.*9G>A	ENSP00000324122.4:n.*9G>A
ENST00000391755.1:c.*9G>A	ENSP00000375635.1:n.*9G>A
ENST00000419967.5:c.*119G>A	ENSP00000405166.2:n.*119G>A
ENST00000466404.5:n.1569G>A
XM_006723137.2:c.*9G>A	XP_006723200.1:n.*9G>A
XM_006723137.4:c.*9G>A	XP_006723200.1:n.*9G>A
XR_002958293.1:n.1753G>A
XR_935789.1:n.1586G>A
XR_935789.3:n.1598G>A