Canonical Allele Identifier: CA309325164

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54123803G>A , CM000681.2:g.54123803G>A	GRCh38
NC_000019.8:g.59318994G>A	NCBI36
NG_009759.1:g.13393G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.582G>A MANE Select	NP_056444.3:p.Ala194=
ENST00000321030.9:c.582G>A MANE Select	ENSP00000324122.4:p.Ala194=
NM_015629.3:c.582G>A	NP_056444.3:p.Ala194=
ENST00000321030.8:c.582G>A	ENSP00000324122.4:p.Ala194=
ENST00000391755.1:c.582G>A	ENSP00000375635.1:p.Ala194=
ENST00000419967.5:c.582G>A	ENSP00000405166.2:p.Ala194=
ENST00000445124.5:c.582G>A	ENSP00000408980.1:p.Ala194=
ENST00000445811.5:c.582G>A	ENSP00000395894.1:p.Ala194=
ENST00000447810.5:c.582G>A	ENSP00000395089.1:p.Ala194=
ENST00000466404.5:n.452G>A
ENST00000498612.1:n.365G>A
XM_006723137.2:c.582G>A	XP_006723200.1:p.Ala194=
XM_006723137.4:c.582G>A	XP_006723200.1:p.Ala194=
XR_002958293.1:n.712G>A
XR_935789.1:n.631G>A
XR_935789.3:n.643G>A