Canonical Allele Identifier: CA2635248269

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650729-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650729T>G , CM000679.2:g.1650729T>G	GRCh38
NC_000017.10:g.1554023T>G , CM000679.1:g.1554023T>G	GRCh37
NC_000017.9:g.1500773T>G	NCBI36
NG_009118.1:g.39154A>C
NG_033061.1:g.4370A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*73A>C	ENSP00000460849.2:n.*73A>C
ENST00000703537.1:c.2829A>C
ENST00000703538.1:c.*6804A>C	ENSP00000515361.1:n.*6804A>C
ENST00000703539.1:n.3395A>C
ENST00000703540.1:c.*73A>C	ENSP00000515362.1:n.*73A>C
ENST00000304992.11:c.*73A>C MANE Select	ENSP00000304350.6:n.*73A>C
ENST00000304992.10:c.*73A>C	ENSP00000304350.6:n.*73A>C
ENST00000571958.1:c.280A>C
ENST00000572621.5:c.*73A>C	ENSP00000460348.1:n.*73A>C
NM_006445.3:c.*73A>C	NP_006436.3:n.*73A>C
XM_024450537.1:c.*73A>C	XP_024306305.1:n.*73A>C
NM_006445.4:c.*73A>C MANE Select	NP_006436.3:n.*73A>C