Canonical Allele Identifier: CA9972533

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64031978G>A , CM000682.2:g.64031978G>A	GRCh38
NC_000020.10:g.62663331G>A , CM000682.1:g.62663331G>A	GRCh37
NC_000020.9:g.62133775G>A	NCBI36
NG_029719.1:g.55901G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.2607G>A (PRPF6) MANE Select	NP_036601.2:p.Lys869=
ENST00000266079.5:c.2607G>A (PRPF6) MANE Select	ENSP00000266079.4:p.Lys869=
NM_012469.3:c.2607G>A (PRPF6)	NP_036601.2:p.Lys869=
ENST00000217130.4:c.-7+6561C>T (ZNF512B)	ENSP00000217130.3:n.-7+6561C>T
ENST00000266079.4:c.2607G>A (PRPF6)	ENSP00000266079.4:p.Lys869=
ENST00000450537.5:c.-6+16727C>T (ZNF512B)	ENSP00000393795.1:n.-6+16727C>T
XM_006723769.2:c.2388G>A (PRPF6)	XP_006723832.1:p.Lys796=
XM_006723769.3:c.2388G>A (PRPF6)	XP_006723832.1:p.Lys796=