Canonical Allele Identifier: CA2635248090
Gene: PRPF8 HGNC NCBI

Linked Data

gnomAD v4: 17-1650629-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650629T>A , CM000679.2:g.1650629T>A GRCh38
NC_000017.10:g.1553923T>A , CM000679.1:g.1553923T>A GRCh37
NC_000017.9:g.1500673T>A NCBI36
NG_009118.1:g.39254A>T
NG_033061.1:g.4470A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304992.11:c.*173A>T MANE Select ENSP00000304350.6:n.*173A>T
ENST00000304992.10:c.*173A>T ENSP00000304350.6:n.*173A>T
ENST00000571958.1:c.380A>T
NM_006445.3:c.*173A>T NP_006436.3:n.*173A>T
XM_024450537.1:c.*173A>T XP_024306305.1:n.*173A>T
NM_006445.4:c.*173A>T MANE Select NP_006436.3:n.*173A>T
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