Canonical Allele Identifier: CA9971774

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63981302G>A , CM000682.2:g.63981302G>A	GRCh38
NC_000020.10:g.62612655G>A , CM000682.1:g.62612655G>A	GRCh37
NC_000020.9:g.62083099G>A	NCBI36
NG_029719.1:g.5225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266079.5:c.57G>A (PRPF6) MANE Select	ENSP00000266079.4:p.Pro19=
ENST00000217130.4:c.-6-13346C>T (ZNF512B)	ENSP00000217130.3:n.-6-13346C>T
ENST00000266079.4:c.57G>A (PRPF6)	ENSP00000266079.4:p.Pro19=
ENST00000450537.5:c.-5-13347C>T (ZNF512B)	ENSP00000393795.1:n.-5-13347C>T
NM_012469.3:c.57G>A (PRPF6)	NP_036601.2:p.Pro19=
XM_006723769.2:c.57G>A (PRPF6)	XP_006723832.1:p.Pro19=
XM_006723769.3:c.57G>A (PRPF6)	XP_006723832.1:p.Pro19=
NM_012469.4:c.57G>A (PRPF6) MANE Select	NP_036601.2:p.Pro19=