Canonical Allele Identifier: CA2479117560

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346479A= , CM000663.2:g.150346479A=	GRCh38
NC_000001.10:g.150318955A= , CM000663.1:g.150318955A=	GRCh37
NC_000001.9:g.148585579A=	NCBI36
NG_008245.1:g.30028A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1831A= MANE Select	ENSP00000315379.6:p.Thr611=
ENST00000324862.6:c.1831A=	ENSP00000315379.6:p.Thr611=
ENST00000467329.5:n.2158A=
ENST00000476970.1:n.940A=
NM_004698.2:c.1831A=	NP_004689.1:p.Thr611=
XM_011510128.1:c.1831A=	XP_011508430.1:p.Thr611=
XM_011510129.1:c.1426A=	XP_011508431.1:p.Thr476=
XM_011510130.1:c.1399A=	XP_011508432.1:p.Thr467=
XR_241103.1:n.1814A=
XR_921997.1:n.1814A=
XR_921998.1:n.1928A=
NM_001350529.1:c.1426A=	NP_001337458.1:p.Thr476=
NM_004698.3:c.1831A=	NP_004689.1:p.Thr611=
NR_146766.1:n.2062A=
NR_146767.1:n.2158A=
NR_146768.1:n.2004A=
NR_146769.1:n.2057A=
XM_011510130.3:c.1399A=	XP_011508432.1:p.Thr467=
XM_017002790.1:c.1399A=	XP_016858279.1:p.Thr467=
XR_001737536.2:n.1864A=
XR_001737537.2:n.1978A=
XR_001737540.2:n.2735A=
XR_001737541.2:n.1758A=
XR_002958009.1:n.2488A=
XR_002958010.1:n.3724A=
XR_002958012.1:n.1920A=
XR_241103.3:n.1806A=
XR_921997.3:n.1806A=
XR_921998.3:n.1920A=
NM_004698.4:c.1831A= MANE Select	NP_004689.1:p.Thr611=