Canonical Allele Identifier: CA2499225585

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54115798G>A , CM000681.2:g.54115798G>A	GRCh38
NC_000019.8:g.59310990G>A	NCBI36
NG_009759.1:g.5389G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.-9+1G>A MANE Select	NP_056444.3:n.-9+1G>A
ENST00000321030.9:c.-9+1G>A MANE Select	ENSP00000324122.4:n.-9+1G>A
NM_015629.3:c.-9+1G>A	NP_056444.3:n.-9+1G>A
ENST00000321030.8:c.-9+1G>A	ENSP00000324122.4:n.-9+1G>A
ENST00000419967.5:c.-9+1G>A	ENSP00000405166.2:n.-9+1G>A
ENST00000445124.5:c.-39+1G>A	ENSP00000408980.1:n.-39+1G>A
ENST00000445811.5:c.-32+1G>A	ENSP00000395894.1:n.-32+1G>A
XM_006723137.2:c.-39+1G>A	XP_006723200.1:n.-39+1G>A
XM_006723137.4:c.-39+1G>A	XP_006723200.1:n.-39+1G>A
XR_002958293.1:n.92+1G>A
XR_935789.1:n.41+1G>A
XR_935789.3:n.53+1G>A