Canonical Allele Identifier: CA9972450

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64028487C>T , CM000682.2:g.64028487C>T	GRCh38
NC_000020.10:g.62659840C>T , CM000682.1:g.62659840C>T	GRCh37
NC_000020.9:g.62130284C>T	NCBI36
NG_029719.1:g.52410C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.2349C>T (PRPF6) MANE Select	NP_036601.2:p.Ser783=
ENST00000266079.5:c.2349C>T (PRPF6) MANE Select	ENSP00000266079.4:p.Ser783=
NM_012469.3:c.2349C>T (PRPF6)	NP_036601.2:p.Ser783=
ENST00000217130.4:c.-7+10052G>A (ZNF512B)	ENSP00000217130.3:n.-7+10052G>A
ENST00000266079.4:c.2349C>T (PRPF6)	ENSP00000266079.4:p.Ser783=
ENST00000450537.5:c.-6+20218G>A (ZNF512B)	ENSP00000393795.1:n.-6+20218G>A
XM_006723769.2:c.2130C>T (PRPF6)	XP_006723832.1:p.Ser710=
XM_006723769.3:c.2130C>T (PRPF6)	XP_006723832.1:p.Ser710=