Canonical Allele Identifier: CA9972036

Gene: PRPF6 ZNF512B

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63999597T>C , CM000682.2:g.63999597T>C	GRCh38
NC_000020.10:g.62630950T>C , CM000682.1:g.62630950T>C	GRCh37
NC_000020.9:g.62101394T>C	NCBI36
NG_029719.1:g.23520T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012469.4:c.867-6T>C (PRPF6) MANE Select	NP_036601.2:n.867-6T>C
ENST00000266079.5:c.867-6T>C (PRPF6) MANE Select	ENSP00000266079.4:n.867-6T>C
NM_012469.3:c.867-6T>C (PRPF6)	NP_036601.2:n.867-6T>C
ENST00000217130.4:c.-6-31641A>G (ZNF512B)	ENSP00000217130.3:n.-6-31641A>G
ENST00000266079.4:c.867-6T>C (PRPF6)	ENSP00000266079.4:n.867-6T>C
ENST00000450537.5:c.-5-31642A>G (ZNF512B)	ENSP00000393795.1:n.-5-31642A>G
XM_006723769.2:c.867-6T>C (PRPF6)	XP_006723832.1:n.867-6T>C
XM_006723769.3:c.867-6T>C (PRPF6)	XP_006723832.1:n.867-6T>C