Canonical Allele Identifier: CA980683827

Gene: PRPF8

Linked Data

• dbSNP Id: rs1910985239
• gnomAD v3: 17-1650741-G-A
• gnomAD v4: 17-1650741-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650741G>A , CM000679.2:g.1650741G>A	GRCh38
NC_000017.10:g.1554035G>A , CM000679.1:g.1554035G>A	GRCh37
NC_000017.9:g.1500785G>A	NCBI36
NG_009118.1:g.39142C>T
NG_033061.1:g.4358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*61C>T	ENSP00000460849.2:n.*61C>T
ENST00000703537.1:c.2817C>T
ENST00000703538.1:c.*6792C>T	ENSP00000515361.1:n.*6792C>T
ENST00000703539.1:n.3383C>T
ENST00000703540.1:c.*61C>T	ENSP00000515362.1:n.*61C>T
ENST00000304992.11:c.*61C>T MANE Select	ENSP00000304350.6:n.*61C>T
ENST00000304992.10:c.*61C>T	ENSP00000304350.6:n.*61C>T
ENST00000571958.1:c.268C>T
ENST00000572621.5:c.*61C>T	ENSP00000460348.1:n.*61C>T
NM_006445.3:c.*61C>T	NP_006436.3:n.*61C>T
XM_024450537.1:c.*61C>T	XP_024306305.1:n.*61C>T
NM_006445.4:c.*61C>T MANE Select	NP_006436.3:n.*61C>T