Canonical Allele Identifier: CA2479117548

Gene: PRPF3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150346444T= , CM000663.2:g.150346444T=	GRCh38
NC_000001.10:g.150318920T= , CM000663.1:g.150318920T=	GRCh37
NC_000001.9:g.148585544T=	NCBI36
NG_008245.1:g.29993T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324862.7:c.1796T= MANE Select	ENSP00000315379.6:p.Leu599=
ENST00000324862.6:c.1796T=	ENSP00000315379.6:p.Leu599=
ENST00000467329.5:n.2123T=
ENST00000476970.1:n.905T=
NM_004698.2:c.1796T=	NP_004689.1:p.Leu599=
XM_011510128.1:c.1796T=	XP_011508430.1:p.Leu599=
XM_011510129.1:c.1391T=	XP_011508431.1:p.Leu464=
XM_011510130.1:c.1364T=	XP_011508432.1:p.Leu455=
XR_241103.1:n.1779T=
XR_921997.1:n.1779T=
XR_921998.1:n.1893T=
NM_001350529.1:c.1391T=	NP_001337458.1:p.Leu464=
NM_004698.3:c.1796T=	NP_004689.1:p.Leu599=
NR_146766.1:n.2027T=
NR_146767.1:n.2123T=
NR_146768.1:n.1969T=
NR_146769.1:n.2022T=
XM_011510130.3:c.1364T=	XP_011508432.1:p.Leu455=
XM_017002790.1:c.1364T=	XP_016858279.1:p.Leu455=
XR_001737536.2:n.1829T=
XR_001737537.2:n.1943T=
XR_001737540.2:n.2700T=
XR_001737541.2:n.1723T=
XR_002958009.1:n.2453T=
XR_002958010.1:n.3689T=
XR_002958012.1:n.1885T=
XR_241103.3:n.1771T=
XR_921997.3:n.1771T=
XR_921998.3:n.1885T=
NM_004698.4:c.1796T= MANE Select	NP_004689.1:p.Leu599=