Canonical Allele Identifier: CA980674634

Gene: PRPF8

Linked Data

• dbSNP Id: rs1911021401
• gnomAD v3: 17-1651038-A-G
• gnomAD v4: 17-1651038-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1651038A>G , CM000679.2:g.1651038A>G	GRCh38
NC_000017.10:g.1554332A>G , CM000679.1:g.1554332A>G	GRCh37
NC_000017.9:g.1501082A>G	NCBI36
NG_009118.1:g.38845T>C
NG_033061.1:g.4061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6673+70T>C	ENSP00000460849.2:n.6673+70T>C
ENST00000703537.1:c.2601+70T>C
ENST00000703538.1:c.*6576+70T>C	ENSP00000515361.1:n.*6576+70T>C
ENST00000703539.1:n.3167+70T>C
ENST00000703540.1:c.6706+70T>C	ENSP00000515362.1:n.6706+70T>C
ENST00000703541.1:c.6718+70T>C	ENSP00000515363.1:n.6718+70T>C
ENST00000304992.11:c.6853+70T>C MANE Select	ENSP00000304350.6:n.6853+70T>C
ENST00000304992.10:c.6853+70T>C	ENSP00000304350.6:n.6853+70T>C
ENST00000571958.1:c.162+70T>C
ENST00000572621.5:c.6853+70T>C	ENSP00000460348.1:n.6853+70T>C
ENST00000572723.1:n.842+70T>C
NM_006445.3:c.6853+70T>C	NP_006436.3:n.6853+70T>C
XM_024450537.1:c.6853+70T>C	XP_024306305.1:n.6853+70T>C
NM_006445.4:c.6853+70T>C MANE Select	NP_006436.3:n.6853+70T>C