Canonical Allele Identifier: CA355916450
Gene: PDE6B HGNC NCBI

Linked Data

gnomAD v4: 4-660611-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.660611G>T , CM000666.2:g.660611G>T GRCh38
NC_000004.11:g.654400G>T , CM000666.1:g.654400G>T GRCh37
NC_000004.10:g.644400G>T NCBI36
NG_009839.1:g.40038G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1612G>T MANE Select ENSP00000420295.1:p.Glu538Ter
ENST00000255622.10:c.1612G>T ENSP00000255622.6:p.Glu538Ter
ENST00000429163.6:c.775G>T ENSP00000406334.2:p.Glu259Ter
ENST00000496514.5:c.1612G>T ENSP00000420295.1:p.Glu538Ter
NM_000283.3:c.1612G>T NP_000274.2:p.Glu538Ter
NM_001145291.1:c.1612G>T NP_001138763.1:p.Glu538Ter
NM_001145292.1:c.775G>T NP_001138764.1:p.Glu259Ter
XM_011513473.1:c.1831G>T XP_011511775.1:p.Glu611Ter
XM_011513474.1:c.1831G>T XP_011511776.1:p.Glu611Ter
XM_011513475.1:c.1612G>T XP_011511777.1:p.Glu538Ter
XM_011513476.1:c.1831G>T XP_011511778.1:p.Glu611Ter
XM_011513477.1:c.817G>T XP_011511779.1:p.Glu273Ter
XM_011513478.1:c.541G>T XP_011511780.1:p.Glu181Ter
NM_001350154.1:c.775G>T NP_001337083.1:p.Glu259Ter
NM_001350155.1:c.457G>T NP_001337084.1:p.Glu153Ter
XM_011513473.3:c.1831G>T XP_011511775.1:p.Glu611Ter
XM_011513474.3:c.1831G>T XP_011511776.1:p.Glu611Ter
XM_011513475.2:c.1612G>T XP_011511777.1:p.Glu538Ter
XM_011513476.3:c.1831G>T XP_011511778.1:p.Glu611Ter
XM_011513478.2:c.541G>T XP_011511780.1:p.Glu181Ter
XM_017008284.1:c.775G>T XP_016863773.1:p.Glu259Ter
XM_017008285.1:c.775G>T XP_016863774.1:p.Glu259Ter
XM_017008286.1:c.775G>T XP_016863775.1:p.Glu259Ter
NM_001350154.2:c.775G>T NP_001337083.1:p.Glu259Ter
NM_001350155.2:c.457G>T NP_001337084.1:p.Glu153Ter
NM_000283.4:c.1612G>T MANE Select NP_000274.3:p.Glu538Ter
NM_001145291.2:c.1612G>T NP_001138763.2:p.Glu538Ter
NM_001145292.2:c.775G>T NP_001138764.2:p.Glu259Ter
NM_001350154.3:c.775G>T NP_001337083.1:p.Glu259Ter
NM_001350155.3:c.457G>T NP_001337084.1:p.Glu153Ter
NM_001379246.1:c.775G>T NP_001366175.1:p.Glu259Ter
NM_001379247.1:c.775G>T NP_001366176.1:p.Glu259Ter