Canonical Allele Identifier: CA2242977340

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650884T= , CM000679.2:g.1650884T=	GRCh38
NC_000017.10:g.1554178T= , CM000679.1:g.1554178T=	GRCh37
NC_000017.9:g.1500928T=	NCBI36
NG_009118.1:g.38999A=
NG_033061.1:g.4215A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6746A=	ENSP00000460849.2:p.His2249=
ENST00000703537.1:c.2674A=
ENST00000703538.1:c.*6649A=	ENSP00000515361.1:n.*6649A=
ENST00000703539.1:n.3240A=
ENST00000703540.1:c.6779A=	ENSP00000515362.1:p.His2260=
ENST00000703541.1:c.6791A=	ENSP00000515363.1:p.His2264=
ENST00000304992.11:c.6926A= MANE Select	ENSP00000304350.6:p.His2309=
ENST00000304992.10:c.6926A=	ENSP00000304350.6:p.His2309=
ENST00000571958.1:c.163-38A=
ENST00000572621.5:c.6926A=	ENSP00000460348.1:p.His2309=
ENST00000572723.1:n.915A=
NM_006445.3:c.6926A=	NP_006436.3:p.His2309=
XM_024450537.1:c.6926A=	XP_024306305.1:p.His2309=
NM_006445.4:c.6926A= MANE Select	NP_006436.3:p.His2309=