Canonical Allele Identifier: CA2242977032
Gene: PRPF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650721C= , CM000679.2:g.1650721C= GRCh38
NC_000017.10:g.1554015C= , CM000679.1:g.1554015C= GRCh37
NC_000017.9:g.1500765C= NCBI36
NG_009118.1:g.39162G=
NG_033061.1:g.4378G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000573725.2:c.*81G= ENSP00000460849.2:n.*81G=
ENST00000703537.1:c.2837G=
ENST00000703538.1:c.*6812G= ENSP00000515361.1:n.*6812G=
ENST00000703539.1:n.3403G=
ENST00000703540.1:c.*81G= ENSP00000515362.1:n.*81G=
ENST00000304992.11:c.*81G= MANE Select ENSP00000304350.6:n.*81G=
ENST00000304992.10:c.*81G= ENSP00000304350.6:n.*81G=
ENST00000571958.1:c.288G=
ENST00000572621.5:c.*81G= ENSP00000460348.1:n.*81G=
NM_006445.3:c.*81G= NP_006436.3:n.*81G=
XM_024450537.1:c.*81G= XP_024306305.1:n.*81G=
NM_006445.4:c.*81G= MANE Select NP_006436.3:n.*81G=