Canonical Allele Identifier: CA2635248124
Gene: PRPF8 HGNC NCBI

Linked Data

gnomAD v4: 17-1650648-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650648A>T , CM000679.2:g.1650648A>T GRCh38
NC_000017.10:g.1553942A>T , CM000679.1:g.1553942A>T GRCh37
NC_000017.9:g.1500692A>T NCBI36
NG_009118.1:g.39235T>A
NG_033061.1:g.4451T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304992.11:c.*154T>A MANE Select ENSP00000304350.6:n.*154T>A
ENST00000304992.10:c.*154T>A ENSP00000304350.6:n.*154T>A
ENST00000571958.1:c.361T>A
ENST00000572621.5:c.*154T>A ENSP00000460348.1:n.*154T>A
NM_006445.3:c.*154T>A NP_006436.3:n.*154T>A
XM_024450537.1:c.*154T>A XP_024306305.1:n.*154T>A
NM_006445.4:c.*154T>A MANE Select NP_006436.3:n.*154T>A
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