Canonical Allele Identifier: CA407752870

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54128088A>T , CM000681.2:g.54128088A>T	GRCh38
NC_000019.8:g.59323275A>T	NCBI36
NG_009759.1:g.17674A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.961A>T MANE Select	NP_056444.3:p.Lys321Ter
ENST00000321030.9:c.961A>T MANE Select	ENSP00000324122.4:p.Lys321Ter
NM_015629.3:c.961A>T	NP_056444.3:p.Lys321Ter
ENST00000321030.8:c.961A>T	ENSP00000324122.4:p.Lys321Ter
ENST00000391755.1:c.946-3A>T	ENSP00000375635.1:n.946-3A>T
ENST00000419967.5:c.961A>T	ENSP00000405166.2:p.Lys321Ter
ENST00000466404.5:n.831A>T
ENST00000498612.1:n.772A>T
XM_006723137.2:c.961A>T	XP_006723200.1:p.Lys321Ter
XM_006723137.4:c.961A>T	XP_006723200.1:p.Lys321Ter
XR_002958293.1:n.1119A>T
XR_935789.1:n.1038A>T
XR_935789.3:n.1050A>T