Canonical Allele Identifier: CA2794588

Gene: PDE6B

Linked Data

• dbSNP Id: rs747873251
• ExAC: 4:654381 A / G
• gnomAD v2: 4-654381-A-G
• gnomAD v4: 4-660592-A-G
• MyVariant Identifiers: chr4:g.654381A>G (hg19) ; chr4:g.660592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660592A>G , CM000666.2:g.660592A>G	GRCh38
NC_000004.11:g.654381A>G , CM000666.1:g.654381A>G	GRCh37
NC_000004.10:g.644381A>G	NCBI36
NG_009839.1:g.40019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1593A>G MANE Select	ENSP00000420295.1:p.Arg531=
ENST00000255622.10:c.1593A>G	ENSP00000255622.6:p.Arg531=
ENST00000429163.6:c.756A>G	ENSP00000406334.2:p.Arg252=
ENST00000496514.5:c.1593A>G	ENSP00000420295.1:p.Arg531=
NM_000283.3:c.1593A>G	NP_000274.2:p.Arg531=
NM_001145291.1:c.1593A>G	NP_001138763.1:p.Arg531=
NM_001145292.1:c.756A>G	NP_001138764.1:p.Arg252=
XM_011513473.1:c.1812A>G	XP_011511775.1:p.Arg604=
XM_011513474.1:c.1812A>G	XP_011511776.1:p.Arg604=
XM_011513475.1:c.1593A>G	XP_011511777.1:p.Arg531=
XM_011513476.1:c.1812A>G	XP_011511778.1:p.Arg604=
XM_011513477.1:c.798A>G	XP_011511779.1:p.Arg266=
XM_011513478.1:c.522A>G	XP_011511780.1:p.Arg174=
NM_001350154.1:c.756A>G	NP_001337083.1:p.Arg252=
NM_001350155.1:c.438A>G	NP_001337084.1:p.Arg146=
XM_011513473.3:c.1812A>G	XP_011511775.1:p.Arg604=
XM_011513474.3:c.1812A>G	XP_011511776.1:p.Arg604=
XM_011513475.2:c.1593A>G	XP_011511777.1:p.Arg531=
XM_011513476.3:c.1812A>G	XP_011511778.1:p.Arg604=
XM_011513478.2:c.522A>G	XP_011511780.1:p.Arg174=
XM_017008284.1:c.756A>G	XP_016863773.1:p.Arg252=
XM_017008285.1:c.756A>G	XP_016863774.1:p.Arg252=
XM_017008286.1:c.756A>G	XP_016863775.1:p.Arg252=
NM_001350154.2:c.756A>G	NP_001337083.1:p.Arg252=
NM_001350155.2:c.438A>G	NP_001337084.1:p.Arg146=
NM_000283.4:c.1593A>G MANE Select	NP_000274.3:p.Arg531=
NM_001145291.2:c.1593A>G	NP_001138763.2:p.Arg531=
NM_001145292.2:c.756A>G	NP_001138764.2:p.Arg252=
NM_001350154.3:c.756A>G	NP_001337083.1:p.Arg252=
NM_001350155.3:c.438A>G	NP_001337084.1:p.Arg146=
NM_001379246.1:c.756A>G	NP_001366175.1:p.Arg252=
NM_001379247.1:c.756A>G	NP_001366176.1:p.Arg252=