Canonical Allele Identifier: CA2793876

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625846C>T , CM000666.2:g.625846C>T	GRCh38
NC_000004.11:g.619635C>T , CM000666.1:g.619635C>T	GRCh37
NC_000004.10:g.609635C>T	NCBI36
NG_009839.1:g.5273C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.220C>T MANE Select	NP_000274.3:p.Arg74Cys
ENST00000496514.6:c.220C>T MANE Select	ENSP00000420295.1:p.Arg74Cys
NM_000283.3:c.220C>T	NP_000274.2:p.Arg74Cys
NM_001145291.1:c.220C>T	NP_001138763.1:p.Arg74Cys
NM_001145291.2:c.220C>T	NP_001138763.2:p.Arg74Cys
ENST00000255622.10:c.220C>T	ENSP00000255622.6:p.Arg74Cys
ENST00000496514.5:c.220C>T	ENSP00000420295.1:p.Arg74Cys
XM_011513473.1:c.439C>T	XP_011511775.1:p.Arg147Cys
XM_011513473.3:c.439C>T	XP_011511775.1:p.Arg147Cys
XM_011513474.1:c.439C>T	XP_011511776.1:p.Arg147Cys
XM_011513474.3:c.439C>T	XP_011511776.1:p.Arg147Cys
XM_011513475.1:c.220C>T	XP_011511777.1:p.Arg74Cys
XM_011513475.2:c.220C>T	XP_011511777.1:p.Arg74Cys
XM_011513476.1:c.439C>T	XP_011511778.1:p.Arg147Cys
XM_011513476.3:c.439C>T	XP_011511778.1:p.Arg147Cys