Canonical Allele Identifier: CA2635248127

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650650-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650650T>A , CM000679.2:g.1650650T>A	GRCh38
NC_000017.10:g.1553944T>A , CM000679.1:g.1553944T>A	GRCh37
NC_000017.9:g.1500694T>A	NCBI36
NG_009118.1:g.39233A>T
NG_033061.1:g.4449A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304992.11:c.*152A>T MANE Select	ENSP00000304350.6:n.*152A>T
ENST00000304992.10:c.*152A>T	ENSP00000304350.6:n.*152A>T
ENST00000571958.1:c.359A>T
ENST00000572621.5:c.*152A>T	ENSP00000460348.1:n.*152A>T
NM_006445.3:c.*152A>T	NP_006436.3:n.*152A>T
XM_024450537.1:c.*152A>T	XP_024306305.1:n.*152A>T
NM_006445.4:c.*152A>T MANE Select	NP_006436.3:n.*152A>T