Canonical Allele Identifier: CA374554791

Gene: PRPF4

Linked Data

• gnomAD v4: 9-113288218-G-A
• MyVariant Identifiers: chr9:g.116050498G>A (hg19) ; chr9:g.113288218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113288218G>A , CM000671.2:g.113288218G>A	GRCh38
NC_000009.11:g.116050498G>A , CM000671.1:g.116050498G>A	GRCh37
NC_000009.10:g.115090319G>A	NCBI36
NG_034225.1:g.17585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374198.5:c.976G>A MANE Select	ENSP00000363313.4:p.Ala326Thr
ENST00000374199.9:c.979G>A	ENSP00000363315.4:p.Ala327Thr
ENST00000374198.4:c.979G>A	ENSP00000363313.3:p.Ala327Thr
ENST00000374199.8:c.976G>A	ENSP00000363315.3:p.Ala326Thr
NM_001244926.1:c.976G>A	NP_001231855.1:p.Ala326Thr
NM_004697.4:c.979G>A	NP_004688.2:p.Ala327Thr
XM_005252300.2:c.250G>A	XP_005252357.1:p.Ala84Thr
XM_011519181.1:c.979G>A	XP_011517483.1:p.Ala327Thr
NM_001322266.1:c.250G>A	NP_001309195.1:p.Ala84Thr
NM_001322267.1:c.250G>A	NP_001309196.1:p.Ala84Thr
NR_136265.1:n.1089G>A
NR_136266.1:n.1086G>A
NM_001244926.2:c.976G>A MANE Select	NP_001231855.1:p.Ala326Thr
NM_001322266.2:c.250G>A	NP_001309195.1:p.Ala84Thr
NM_001322267.2:c.250G>A	NP_001309196.1:p.Ala84Thr
NM_004697.5:c.979G>A	NP_004688.2:p.Ala327Thr
NR_136265.2:n.1065G>A
NR_136266.2:n.1062G>A