Canonical Allele Identifier: CA2647799354

Gene: PRPF3

Linked Data

• gnomAD v4: 1-150344141-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150344141G>A , CM000663.2:g.150344141G>A	GRCh38
NC_000001.10:g.150316617G>A , CM000663.1:g.150316617G>A	GRCh37
NC_000001.9:g.148583241G>A	NCBI36
NG_008245.1:g.27690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324862.7:c.1427-21G>A MANE Select	ENSP00000315379.6:n.1427-21G>A
ENST00000324862.6:c.1427-21G>A	ENSP00000315379.6:n.1427-21G>A
ENST00000467329.5:n.1696-21G>A
ENST00000493553.1:n.303-21G>A
NM_004698.2:c.1427-21G>A	NP_004689.1:n.1427-21G>A
XM_011510128.1:c.1427-21G>A	XP_011508430.1:n.1427-21G>A
XM_011510129.1:c.1022-21G>A	XP_011508431.1:n.1022-21G>A
XM_011510130.1:c.995-21G>A	XP_011508432.1:n.995-21G>A
XR_241103.1:n.1529-21G>A
XR_241104.1:n.1529-21G>A
XR_921997.1:n.1529-21G>A
XR_921998.1:n.1524-21G>A
NM_001350529.1:c.1022-21G>A	NP_001337458.1:n.1022-21G>A
NM_004698.3:c.1427-21G>A	NP_004689.1:n.1427-21G>A
NR_146766.1:n.1600-21G>A
NR_146767.1:n.1696-21G>A
NR_146768.1:n.1600-21G>A
NR_146769.1:n.1595-21G>A
XM_011510130.3:c.995-21G>A	XP_011508432.1:n.995-21G>A
XM_017002790.1:c.995-21G>A	XP_016858279.1:n.995-21G>A
XR_001737536.2:n.1521-21G>A
XR_001737537.2:n.1516-21G>A
XR_001737540.2:n.2273-21G>A
XR_001737541.2:n.1354-21G>A
XR_002958009.1:n.2026-21G>A
XR_002958010.1:n.1521-21G>A
XR_002958012.1:n.1516-21G>A
XR_241103.3:n.1521-21G>A
XR_921997.3:n.1521-21G>A
XR_921998.3:n.1516-21G>A
NM_004698.4:c.1427-21G>A MANE Select	NP_004689.1:n.1427-21G>A