Canonical Allele Identifier: CA2576113100

Gene: PRPF8

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650737A>C , CM000679.2:g.1650737A>C	GRCh38
NC_000017.10:g.1554031A>C , CM000679.1:g.1554031A>C	GRCh37
NC_000017.9:g.1500781A>C	NCBI36
NG_009118.1:g.39146T>G
NG_033061.1:g.4362T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*65T>G	ENSP00000460849.2:n.*65T>G
ENST00000703537.1:c.2821T>G
ENST00000703538.1:c.*6796T>G	ENSP00000515361.1:n.*6796T>G
ENST00000703539.1:n.3387T>G
ENST00000703540.1:c.*65T>G	ENSP00000515362.1:n.*65T>G
ENST00000304992.11:c.*65T>G MANE Select	ENSP00000304350.6:n.*65T>G
ENST00000304992.10:c.*65T>G	ENSP00000304350.6:n.*65T>G
ENST00000571958.1:c.272T>G
ENST00000572621.5:c.*65T>G	ENSP00000460348.1:n.*65T>G
NM_006445.3:c.*65T>G	NP_006436.3:n.*65T>G
XM_024450537.1:c.*65T>G	XP_024306305.1:n.*65T>G
NM_006445.4:c.*65T>G MANE Select	NP_006436.3:n.*65T>G