Canonical Allele Identifier: CA2793920

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625999C>G , CM000666.2:g.625999C>G	GRCh38
NC_000004.11:g.619788C>G , CM000666.1:g.619788C>G	GRCh37
NC_000004.10:g.609788C>G	NCBI36
NG_009839.1:g.5426C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.373C>G MANE Select	ENSP00000420295.1:p.Pro125Ala
ENST00000255622.10:c.373C>G	ENSP00000255622.6:p.Pro125Ala
ENST00000496514.5:c.373C>G	ENSP00000420295.1:p.Pro125Ala
NM_000283.3:c.373C>G	NP_000274.2:p.Pro125Ala
NM_001145291.1:c.373C>G	NP_001138763.1:p.Pro125Ala
XM_011513473.1:c.592C>G	XP_011511775.1:p.Pro198Ala
XM_011513474.1:c.592C>G	XP_011511776.1:p.Pro198Ala
XM_011513475.1:c.373C>G	XP_011511777.1:p.Pro125Ala
XM_011513476.1:c.592C>G	XP_011511778.1:p.Pro198Ala
XM_011513473.3:c.592C>G	XP_011511775.1:p.Pro198Ala
XM_011513474.3:c.592C>G	XP_011511776.1:p.Pro198Ala
XM_011513475.2:c.373C>G	XP_011511777.1:p.Pro125Ala
XM_011513476.3:c.592C>G	XP_011511778.1:p.Pro198Ala
NM_000283.4:c.373C>G MANE Select	NP_000274.3:p.Pro125Ala
NM_001145291.2:c.373C>G	NP_001138763.2:p.Pro125Ala