Canonical Allele Identifier: CA8271153

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651556A>G , CM000679.2:g.1651556A>G	GRCh38
NC_000017.10:g.1554850A>G , CM000679.1:g.1554850A>G	GRCh37
NC_000017.9:g.1501600A>G	NCBI36
NG_009118.1:g.38327T>C
NG_033061.1:g.3543T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.6511-3T>C MANE Select	NP_006436.3:n.6511-3T>C
ENST00000304992.11:c.6511-3T>C MANE Select	ENSP00000304350.6:n.6511-3T>C
NM_006445.3:c.6511-3T>C	NP_006436.3:n.6511-3T>C
ENST00000304992.10:c.6511-3T>C	ENSP00000304350.6:n.6511-3T>C
ENST00000572621.5:c.6511-3T>C	ENSP00000460348.1:n.6511-3T>C
ENST00000572723.1:n.500-3T>C
ENST00000573725.2:c.6331-3T>C	ENSP00000460849.2:n.6331-3T>C
ENST00000703537.1:c.2259-3T>C
ENST00000703538.1:c.*6234-3T>C	ENSP00000515361.1:n.*6234-3T>C
ENST00000703539.1:n.2825-3T>C
ENST00000703540.1:c.6364-3T>C	ENSP00000515362.1:n.6364-3T>C
ENST00000703541.1:c.6376-3T>C	ENSP00000515363.1:n.6376-3T>C
XM_024450537.1:c.6511-3T>C	XP_024306305.1:n.6511-3T>C