Canonical Allele Identifier: CA309323447

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54121872T>C , CM000681.2:g.54121872T>C	GRCh38
NC_000019.8:g.59317063T>C	NCBI36
NG_009759.1:g.11462T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.251T>C MANE Select	NP_056444.3:p.Val84Ala
ENST00000321030.9:c.251T>C MANE Select	ENSP00000324122.4:p.Val84Ala
NM_015629.3:c.251T>C	NP_056444.3:p.Val84Ala
ENST00000321030.8:c.251T>C	ENSP00000324122.4:p.Val84Ala
ENST00000391755.1:c.251T>C	ENSP00000375635.1:p.Val84Ala
ENST00000419967.5:c.251T>C	ENSP00000405166.2:p.Val84Ala
ENST00000445124.5:c.251T>C	ENSP00000408980.1:p.Val84Ala
ENST00000445811.5:c.251T>C	ENSP00000395894.1:p.Val84Ala
ENST00000447810.5:c.251T>C	ENSP00000395089.1:p.Val84Ala
ENST00000466404.5:n.121T>C
ENST00000498612.1:n.34T>C
XM_006723137.2:c.251T>C	XP_006723200.1:p.Val84Ala
XM_006723137.4:c.251T>C	XP_006723200.1:p.Val84Ala
XR_002958293.1:n.381T>C
XR_935789.1:n.300T>C
XR_935789.3:n.312T>C