Canonical Allele Identifier: CA2242976939
Gene: PRPF8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650646T= , CM000679.2:g.1650646T= GRCh38
NC_000017.10:g.1553940T= , CM000679.1:g.1553940T= GRCh37
NC_000017.9:g.1500690T= NCBI36
NG_009118.1:g.39237A=
NG_033061.1:g.4453A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304992.11:c.*156A= MANE Select ENSP00000304350.6:n.*156A=
ENST00000304992.10:c.*156A= ENSP00000304350.6:n.*156A=
ENST00000571958.1:c.363A=
ENST00000572621.5:c.*156A= ENSP00000460348.1:n.*156A=
NM_006445.3:c.*156A= NP_006436.3:n.*156A=
XM_024450537.1:c.*156A= XP_024306305.1:n.*156A=
NM_006445.4:c.*156A= MANE Select NP_006436.3:n.*156A=
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