Canonical Allele Identifier: CA407753572

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54128304G>C , CM000681.2:g.54128304G>C	GRCh38
NC_000019.8:g.59323491G>C	NCBI36
NG_009759.1:g.17890G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.1074-1G>C MANE Select	NP_056444.3:n.1074-1G>C
ENST00000321030.9:c.1074-1G>C MANE Select	ENSP00000324122.4:n.1074-1G>C
NM_015629.3:c.1074-1G>C	NP_056444.3:n.1074-1G>C
ENST00000321030.8:c.1074-1G>C	ENSP00000324122.4:n.1074-1G>C
ENST00000391755.1:c.1056-1G>C	ENSP00000375635.1:n.1056-1G>C
ENST00000419967.5:c.1074-1G>C	ENSP00000405166.2:n.1074-1G>C
ENST00000466404.5:n.1047G>C
XM_006723137.2:c.1074-1G>C	XP_006723200.1:n.1074-1G>C
XM_006723137.4:c.1074-1G>C	XP_006723200.1:n.1074-1G>C
XR_002958293.1:n.1232-1G>C
XR_935789.1:n.1151-1G>C
XR_935789.3:n.1163-1G>C