Canonical Allele Identifier: CA407754977

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54129185G>T , CM000681.2:g.54129185G>T	GRCh38
NC_000019.8:g.59324372G>T	NCBI36
NG_009759.1:g.18771G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.1275G>T MANE Select	NP_056444.3:p.Gln425His
ENST00000321030.9:c.1275G>T MANE Select	ENSP00000324122.4:p.Gln425His
NM_015629.3:c.1275G>T	NP_056444.3:p.Gln425His
ENST00000321030.8:c.1275G>T	ENSP00000324122.4:p.Gln425His
ENST00000391755.1:c.1257G>T	ENSP00000375635.1:p.Gln419His
ENST00000419967.5:c.1275G>T	ENSP00000405166.2:p.Gln425His
ENST00000466404.5:n.1249G>T
XM_006723137.2:c.1275G>T	XP_006723200.1:p.Gln425His
XM_006723137.4:c.1275G>T	XP_006723200.1:p.Gln425His
XR_002958293.1:n.1433G>T
XR_935789.1:n.1352G>T
XR_935789.3:n.1364G>T