Canonical Allele Identifier: CA8271323

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1655554A>G , CM000679.2:g.1655554A>G	GRCh38
NC_000017.10:g.1558848A>G , CM000679.1:g.1558848A>G	GRCh37
NC_000017.9:g.1505598A>G	NCBI36
NG_009118.1:g.34329T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006445.4:c.5794-11T>C MANE Select	NP_006436.3:n.5794-11T>C
ENST00000304992.11:c.5794-11T>C MANE Select	ENSP00000304350.6:n.5794-11T>C
NM_006445.3:c.5794-11T>C	NP_006436.3:n.5794-11T>C
ENST00000304992.10:c.5794-11T>C	ENSP00000304350.6:n.5794-11T>C
ENST00000572621.5:c.5794-11T>C	ENSP00000460348.1:n.5794-11T>C
ENST00000573725.2:c.5614-11T>C	ENSP00000460849.2:n.5614-11T>C
ENST00000703537.1:c.1542-11T>C
ENST00000703538.1:c.*5517-11T>C	ENSP00000515361.1:n.*5517-11T>C
ENST00000703539.1:n.2108-11T>C
ENST00000703540.1:c.5647-11T>C	ENSP00000515362.1:n.5647-11T>C
ENST00000703541.1:c.5659-11T>C	ENSP00000515363.1:n.5659-11T>C
XM_024450537.1:c.5794-11T>C	XP_024306305.1:n.5794-11T>C