Canonical Allele Identifier: CA2793902

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625923G>A , CM000666.2:g.625923G>A	GRCh38
NC_000004.11:g.619712G>A , CM000666.1:g.619712G>A	GRCh37
NC_000004.10:g.609712G>A	NCBI36
NG_009839.1:g.5350G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.297G>A MANE Select	NP_000274.3:p.Gln99=
ENST00000496514.6:c.297G>A MANE Select	ENSP00000420295.1:p.Gln99=
NM_000283.3:c.297G>A	NP_000274.2:p.Gln99=
NM_001145291.1:c.297G>A	NP_001138763.1:p.Gln99=
NM_001145291.2:c.297G>A	NP_001138763.2:p.Gln99=
ENST00000255622.10:c.297G>A	ENSP00000255622.6:p.Gln99=
ENST00000496514.5:c.297G>A	ENSP00000420295.1:p.Gln99=
XM_011513473.1:c.516G>A	XP_011511775.1:p.Gln172=
XM_011513473.3:c.516G>A	XP_011511775.1:p.Gln172=
XM_011513474.1:c.516G>A	XP_011511776.1:p.Gln172=
XM_011513474.3:c.516G>A	XP_011511776.1:p.Gln172=
XM_011513475.1:c.297G>A	XP_011511777.1:p.Gln99=
XM_011513475.2:c.297G>A	XP_011511777.1:p.Gln99=
XM_011513476.1:c.516G>A	XP_011511778.1:p.Gln172=
XM_011513476.3:c.516G>A	XP_011511778.1:p.Gln172=