Canonical Allele Identifier: CA2635248332
Gene: PRPF8 HGNC NCBI

Linked Data

gnomAD v4: 17-1650764-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650764T>G , CM000679.2:g.1650764T>G GRCh38
NC_000017.10:g.1554058T>G , CM000679.1:g.1554058T>G GRCh37
NC_000017.9:g.1500808T>G NCBI36
NG_009118.1:g.39119A>C
NG_033061.1:g.4335A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000573725.2:c.*38A>C ENSP00000460849.2:n.*38A>C
ENST00000703537.1:c.2794A>C
ENST00000703538.1:c.*6769A>C ENSP00000515361.1:n.*6769A>C
ENST00000703539.1:n.3360A>C
ENST00000703540.1:c.*38A>C ENSP00000515362.1:n.*38A>C
ENST00000304992.11:c.*38A>C MANE Select ENSP00000304350.6:n.*38A>C
ENST00000304992.10:c.*38A>C ENSP00000304350.6:n.*38A>C
ENST00000571958.1:c.245A>C
ENST00000572621.5:c.*38A>C ENSP00000460348.1:n.*38A>C
NM_006445.3:c.*38A>C NP_006436.3:n.*38A>C
XM_024450537.1:c.*38A>C XP_024306305.1:n.*38A>C
NM_006445.4:c.*38A>C MANE Select NP_006436.3:n.*38A>C
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