Canonical Allele Identifier: CA2635248224

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650700-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650700C>A , CM000679.2:g.1650700C>A	GRCh38
NC_000017.10:g.1553994C>A , CM000679.1:g.1553994C>A	GRCh37
NC_000017.9:g.1500744C>A	NCBI36
NG_009118.1:g.39183G>T
NG_033061.1:g.4399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*102G>T	ENSP00000460849.2:n.*102G>T
ENST00000703537.1:c.2858G>T
ENST00000703538.1:c.*6833G>T	ENSP00000515361.1:n.*6833G>T
ENST00000703539.1:n.3424G>T
ENST00000703540.1:c.*102G>T	ENSP00000515362.1:n.*102G>T
ENST00000304992.11:c.*102G>T MANE Select	ENSP00000304350.6:n.*102G>T
ENST00000304992.10:c.*102G>T	ENSP00000304350.6:n.*102G>T
ENST00000571958.1:c.309G>T
ENST00000572621.5:c.*102G>T	ENSP00000460348.1:n.*102G>T
NM_006445.3:c.*102G>T	NP_006436.3:n.*102G>T
XM_024450537.1:c.*102G>T	XP_024306305.1:n.*102G>T
NM_006445.4:c.*102G>T MANE Select	NP_006436.3:n.*102G>T