Canonical Allele Identifier: CA2635248110

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650642-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650642A>C , CM000679.2:g.1650642A>C	GRCh38
NC_000017.10:g.1553936A>C , CM000679.1:g.1553936A>C	GRCh37
NC_000017.9:g.1500686A>C	NCBI36
NG_009118.1:g.39241T>G
NG_033061.1:g.4457T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304992.11:c.*160T>G MANE Select	ENSP00000304350.6:n.*160T>G
ENST00000304992.10:c.*160T>G	ENSP00000304350.6:n.*160T>G
ENST00000571958.1:c.367T>G
ENST00000572621.5:c.*160T>G	ENSP00000460348.1:n.*160T>G
NM_006445.3:c.*160T>G	NP_006436.3:n.*160T>G
XM_024450537.1:c.*160T>G	XP_024306305.1:n.*160T>G
NM_006445.4:c.*160T>G MANE Select	NP_006436.3:n.*160T>G