Canonical Allele Identifier: CA2793868

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625830G>C , CM000666.2:g.625830G>C	GRCh38
NC_000004.11:g.619619G>C , CM000666.1:g.619619G>C	GRCh37
NC_000004.10:g.609619G>C	NCBI36
NG_009839.1:g.5257G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.204G>C MANE Select	ENSP00000420295.1:p.Glu68Asp
ENST00000255622.10:c.204G>C	ENSP00000255622.6:p.Glu68Asp
ENST00000496514.5:c.204G>C	ENSP00000420295.1:p.Glu68Asp
NM_000283.3:c.204G>C	NP_000274.2:p.Glu68Asp
NM_001145291.1:c.204G>C	NP_001138763.1:p.Glu68Asp
XM_011513473.1:c.423G>C	XP_011511775.1:p.Glu141Asp
XM_011513474.1:c.423G>C	XP_011511776.1:p.Glu141Asp
XM_011513475.1:c.204G>C	XP_011511777.1:p.Glu68Asp
XM_011513476.1:c.423G>C	XP_011511778.1:p.Glu141Asp
XM_011513473.3:c.423G>C	XP_011511775.1:p.Glu141Asp
XM_011513474.3:c.423G>C	XP_011511776.1:p.Glu141Asp
XM_011513475.2:c.204G>C	XP_011511777.1:p.Glu68Asp
XM_011513476.3:c.423G>C	XP_011511778.1:p.Glu141Asp
NM_000283.4:c.204G>C MANE Select	NP_000274.3:p.Glu68Asp
NM_001145291.2:c.204G>C	NP_001138763.2:p.Glu68Asp