Canonical Allele Identifier: CA309320922

Gene: PRPF31

Linked Data

• ClinVar Variation Id: 330094
• ClinVar RCV Id: RCV000389451 ; RCV002057527
• dbSNP Id: rs886054618
• gnomAD v3: 19-54118462-G-A
• gnomAD v4: 19-54118462-G-A
• MyVariant Identifiers: chr19:g.54118462G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54118462G>A , CM000681.2:g.54118462G>A	GRCh38
NC_000019.8:g.59313654G>A	NCBI36
NG_009759.1:g.8053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321030.9:c.177+7G>A MANE Select	ENSP00000324122.4:n.177+7G>A
ENST00000321030.8:c.177+7G>A	ENSP00000324122.4:n.177+7G>A
ENST00000391755.1:c.177+7G>A	ENSP00000375635.1:n.177+7G>A
ENST00000419967.5:c.177+7G>A	ENSP00000405166.2:n.177+7G>A
ENST00000445124.5:c.177+7G>A	ENSP00000408980.1:n.177+7G>A
ENST00000445811.5:c.177+7G>A	ENSP00000395894.1:n.177+7G>A
ENST00000447810.5:c.177+7G>A	ENSP00000395089.1:n.177+7G>A
ENST00000466404.5:n.47+7G>A
ENST00000467851.1:n.50+7G>A
NM_015629.3:c.177+7G>A	NP_056444.3:n.177+7G>A
XM_006723137.2:c.177+7G>A	XP_006723200.1:n.177+7G>A
XR_935789.1:n.226+7G>A
XM_006723137.4:c.177+7G>A	XP_006723200.1:n.177+7G>A
XR_002958293.1:n.307+7G>A
XR_935789.3:n.238+7G>A
NM_015629.4:c.177+7G>A MANE Select	NP_056444.3:n.177+7G>A