Canonical Allele Identifier: CA407752784

Gene: PRPF31

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54128071A>G , CM000681.2:g.54128071A>G	GRCh38
NC_000019.8:g.59323258A>G	NCBI36
NG_009759.1:g.17657A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015629.4:c.946-2A>G MANE Select	NP_056444.3:n.946-2A>G
ENST00000321030.9:c.946-2A>G MANE Select	ENSP00000324122.4:n.946-2A>G
NM_015629.3:c.946-2A>G	NP_056444.3:n.946-2A>G
ENST00000321030.8:c.946-2A>G	ENSP00000324122.4:n.946-2A>G
ENST00000391755.1:c.946-20A>G	ENSP00000375635.1:n.946-20A>G
ENST00000419967.5:c.946-2A>G	ENSP00000405166.2:n.946-2A>G
ENST00000466404.5:n.816-2A>G
ENST00000498612.1:n.757-2A>G
XM_006723137.2:c.946-2A>G	XP_006723200.1:n.946-2A>G
XM_006723137.4:c.946-2A>G	XP_006723200.1:n.946-2A>G
XR_002958293.1:n.1104-2A>G
XR_935789.1:n.1023-2A>G
XR_935789.3:n.1035-2A>G