Canonical Allele Identifier: CA2635248184

Gene: PRPF8

Linked Data

• gnomAD v4: 17-1650684-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650684A>G , CM000679.2:g.1650684A>G	GRCh38
NC_000017.10:g.1553978A>G , CM000679.1:g.1553978A>G	GRCh37
NC_000017.9:g.1500728A>G	NCBI36
NG_009118.1:g.39199T>C
NG_033061.1:g.4415T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.*118T>C	ENSP00000460849.2:n.*118T>C
ENST00000703537.1:c.2874T>C
ENST00000703538.1:c.*6849T>C	ENSP00000515361.1:n.*6849T>C
ENST00000703539.1:n.3440T>C
ENST00000703540.1:c.*118T>C	ENSP00000515362.1:n.*118T>C
ENST00000304992.11:c.*118T>C MANE Select	ENSP00000304350.6:n.*118T>C
ENST00000304992.10:c.*118T>C	ENSP00000304350.6:n.*118T>C
ENST00000571958.1:c.325T>C
ENST00000572621.5:c.*118T>C	ENSP00000460348.1:n.*118T>C
NM_006445.3:c.*118T>C	NP_006436.3:n.*118T>C
XM_024450537.1:c.*118T>C	XP_024306305.1:n.*118T>C
NM_006445.4:c.*118T>C MANE Select	NP_006436.3:n.*118T>C