Canonical Allele Identifier: CA355919596

Gene: PDE6B

Linked Data

• dbSNP Id: rs1290797512
• gnomAD v3: 4-664886-T-G
• gnomAD v4: 4-664886-T-G
• MyVariant Identifiers: chr4:g.658675T>G (hg19) ; chr4:g.664886T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.664886T>G , CM000666.2:g.664886T>G	GRCh38
NC_000004.11:g.658675T>G , CM000666.1:g.658675T>G	GRCh37
NC_000004.10:g.648675T>G	NCBI36
NG_009839.1:g.44313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.2135T>G MANE Select	ENSP00000420295.1:p.Met712Arg
ENST00000255622.10:c.2135T>G	ENSP00000255622.6:p.Met712Arg
ENST00000429163.6:c.1298T>G	ENSP00000406334.2:p.Met433Arg
ENST00000460119.1:n.505T>G
ENST00000471824.6:c.215T>G	ENSP00000417852.2:p.Met72Arg
ENST00000496514.5:c.2135T>G	ENSP00000420295.1:p.Met712Arg
NM_000283.3:c.2135T>G	NP_000274.2:p.Met712Arg
NM_001145291.1:c.2135T>G	NP_001138763.1:p.Met712Arg
NM_001145292.1:c.1298T>G	NP_001138764.1:p.Met433Arg
XM_011513473.1:c.2354T>G	XP_011511775.1:p.Met785Arg
XM_011513474.1:c.2354T>G	XP_011511776.1:p.Met785Arg
XM_011513475.1:c.2135T>G	XP_011511777.1:p.Met712Arg
XM_011513476.1:c.2354T>G	XP_011511778.1:p.Met785Arg
XM_011513477.1:c.1340T>G	XP_011511779.1:p.Met447Arg
XM_011513478.1:c.1064T>G	XP_011511780.1:p.Met355Arg
NM_001350154.1:c.1298T>G	NP_001337083.1:p.Met433Arg
NM_001350155.1:c.980T>G	NP_001337084.1:p.Met327Arg
XM_011513473.3:c.2354T>G	XP_011511775.1:p.Met785Arg
XM_011513474.3:c.2354T>G	XP_011511776.1:p.Met785Arg
XM_011513475.2:c.2135T>G	XP_011511777.1:p.Met712Arg
XM_011513476.3:c.2354T>G	XP_011511778.1:p.Met785Arg
XM_011513478.2:c.1064T>G	XP_011511780.1:p.Met355Arg
XM_017008284.1:c.1298T>G	XP_016863773.1:p.Met433Arg
XM_017008285.1:c.1298T>G	XP_016863774.1:p.Met433Arg
XM_017008286.1:c.1298T>G	XP_016863775.1:p.Met433Arg
NM_001350154.2:c.1298T>G	NP_001337083.1:p.Met433Arg
NM_001350155.2:c.980T>G	NP_001337084.1:p.Met327Arg
NM_000283.4:c.2135T>G MANE Select	NP_000274.3:p.Met712Arg
NM_001145291.2:c.2135T>G	NP_001138763.2:p.Met712Arg
NM_001145292.2:c.1298T>G	NP_001138764.2:p.Met433Arg
NM_001350154.3:c.1298T>G	NP_001337083.1:p.Met433Arg
NM_001350155.3:c.980T>G	NP_001337084.1:p.Met327Arg
NM_001379246.1:c.1298T>G	NP_001366175.1:p.Met433Arg
NM_001379247.1:c.1298T>G	NP_001366176.1:p.Met433Arg