Canonical Allele Identifier: CA1139666599

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54131495G>T , CM000681.2:g.54131495G>T	GRCh38
NC_000019.8:g.59326738G>T	NCBI36
NG_009759.1:g.21137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321030.9:c.*63G>T MANE Select	ENSP00000324122.4:n.*63G>T
ENST00000321030.8:c.*63G>T	ENSP00000324122.4:n.*63G>T
ENST00000391755.1:c.*63G>T	ENSP00000375635.1:n.*63G>T
ENST00000419967.5:c.*173G>T	ENSP00000405166.2:n.*173G>T
ENST00000466404.5:n.1623G>T
NM_015629.3:c.*63G>T	NP_056444.3:n.*63G>T
XM_006723137.2:c.*63G>T	XP_006723200.1:n.*63G>T
XR_935789.1:n.1640G>T
XM_006723137.4:c.*63G>T	XP_006723200.1:n.*63G>T
XR_002958293.1:n.1807G>T
XR_935789.3:n.1652G>T
NM_015629.4:c.*63G>T MANE Select	NP_056444.3:n.*63G>T