Canonical Allele Identifier: CA2635248096
Gene: PRPF8 HGNC NCBI

Linked Data

gnomAD v4: 17-1650633-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650633A>G , CM000679.2:g.1650633A>G GRCh38
NC_000017.10:g.1553927A>G , CM000679.1:g.1553927A>G GRCh37
NC_000017.9:g.1500677A>G NCBI36
NG_009118.1:g.39250T>C
NG_033061.1:g.4466T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304992.11:c.*169T>C MANE Select ENSP00000304350.6:n.*169T>C
ENST00000304992.10:c.*169T>C ENSP00000304350.6:n.*169T>C
ENST00000571958.1:c.376T>C
ENST00000572621.5:c.*169T>C ENSP00000460348.1:n.*169T>C
NM_006445.3:c.*169T>C NP_006436.3:n.*169T>C
XM_024450537.1:c.*169T>C XP_024306305.1:n.*169T>C
NM_006445.4:c.*169T>C MANE Select NP_006436.3:n.*169T>C
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