Canonical Allele Identifier: CA317546475

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.64022886G>A , CM000682.2:g.64022886G>A	GRCh38
NC_000020.10:g.62654239G>A , CM000682.1:g.62654239G>A	GRCh37
NC_000020.9:g.62124683G>A	NCBI36
NG_029719.1:g.46809G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.1769+8G>A (PRPF6) MANE Select	NP_036601.2:n.1769+8G>A
ENST00000266079.5:c.1769+8G>A (PRPF6) MANE Select	ENSP00000266079.4:n.1769+8G>A
NM_012469.3:c.1769+8G>A (PRPF6)	NP_036601.2:n.1769+8G>A
ENST00000217130.4:c.-7+15653C>T (ZNF512B)	ENSP00000217130.3:n.-7+15653C>T
ENST00000266079.4:c.1769+8G>A (PRPF6)	ENSP00000266079.4:n.1769+8G>A
ENST00000450537.5:c.-6+25819C>T (ZNF512B)	ENSP00000393795.1:n.-6+25819C>T
XM_006723769.2:c.1550+8G>A (PRPF6)	XP_006723832.1:n.1550+8G>A
XM_006723769.3:c.1550+8G>A (PRPF6)	XP_006723832.1:n.1550+8G>A