Canonical Allele Identifier: CA9971912

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63994912C>T , CM000682.2:g.63994912C>T	GRCh38
NC_000020.10:g.62626265C>T , CM000682.1:g.62626265C>T	GRCh37
NC_000020.9:g.62096709C>T	NCBI36
NG_029719.1:g.18835C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.439-4C>T (PRPF6) MANE Select	NP_036601.2:n.439-4C>T
ENST00000266079.5:c.439-4C>T (PRPF6) MANE Select	ENSP00000266079.4:n.439-4C>T
NM_012469.3:c.439-4C>T (PRPF6)	NP_036601.2:n.439-4C>T
ENST00000217130.4:c.-6-26956G>A (ZNF512B)	ENSP00000217130.3:n.-6-26956G>A
ENST00000266079.4:c.439-4C>T (PRPF6)	ENSP00000266079.4:n.439-4C>T
ENST00000450537.5:c.-5-26957G>A (ZNF512B)	ENSP00000393795.1:n.-5-26957G>A
XM_006723769.2:c.439-4C>T (PRPF6)	XP_006723832.1:n.439-4C>T
XM_006723769.3:c.439-4C>T (PRPF6)	XP_006723832.1:n.439-4C>T