Canonical Allele Identifier: CA980683825

Gene: PRPF8

Linked Data

• dbSNP Id: rs1910984745
• gnomAD v3: 17-1650732-A-G
• gnomAD v4: 17-1650732-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650732A>G , CM000679.2:g.1650732A>G	GRCh38
NC_000017.10:g.1554026A>G , CM000679.1:g.1554026A>G	GRCh37
NC_000017.9:g.1500776A>G	NCBI36
NG_009118.1:g.39151T>C
NG_033061.1:g.4367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*70T>C	ENSP00000460849.2:n.*70T>C
ENST00000703537.1:c.2826T>C
ENST00000703538.1:c.*6801T>C	ENSP00000515361.1:n.*6801T>C
ENST00000703539.1:n.3392T>C
ENST00000703540.1:c.*70T>C	ENSP00000515362.1:n.*70T>C
ENST00000304992.11:c.*70T>C MANE Select	ENSP00000304350.6:n.*70T>C
ENST00000304992.10:c.*70T>C	ENSP00000304350.6:n.*70T>C
ENST00000571958.1:c.277T>C
ENST00000572621.5:c.*70T>C	ENSP00000460348.1:n.*70T>C
NM_006445.3:c.*70T>C	NP_006436.3:n.*70T>C
XM_024450537.1:c.*70T>C	XP_024306305.1:n.*70T>C
NM_006445.4:c.*70T>C MANE Select	NP_006436.3:n.*70T>C