Canonical Allele Identifier: CA2794601
Gene: PDE6B HGNC NCBI

Linked Data

dbSNP Id: rs553760477
gnomAD v2: 4-654421-C-G
gnomAD v4: 4-660632-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.660632C>G , CM000666.2:g.660632C>G GRCh38
NC_000004.11:g.654421C>G , CM000666.1:g.654421C>G GRCh37
NC_000004.10:g.644421C>G NCBI36
NG_009839.1:g.40059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496514.6:c.1614+19C>G MANE Select ENSP00000420295.1:n.1614+19C>G
ENST00000255622.10:c.1614+19C>G ENSP00000255622.6:n.1614+19C>G
ENST00000429163.6:c.777+19C>G ENSP00000406334.2:n.777+19C>G
ENST00000496514.5:c.1614+19C>G ENSP00000420295.1:n.1614+19C>G
NM_000283.3:c.1614+19C>G NP_000274.2:n.1614+19C>G
NM_001145291.1:c.1614+19C>G NP_001138763.1:n.1614+19C>G
NM_001145292.1:c.777+19C>G NP_001138764.1:n.777+19C>G
XM_011513473.1:c.1833+19C>G XP_011511775.1:n.1833+19C>G
XM_011513474.1:c.1833+19C>G XP_011511776.1:n.1833+19C>G
XM_011513475.1:c.1614+19C>G XP_011511777.1:n.1614+19C>G
XM_011513476.1:c.1833+19C>G XP_011511778.1:n.1833+19C>G
XM_011513477.1:c.819+19C>G XP_011511779.1:n.819+19C>G
XM_011513478.1:c.543+19C>G XP_011511780.1:n.543+19C>G
NM_001350154.1:c.777+19C>G NP_001337083.1:n.777+19C>G
NM_001350155.1:c.459+19C>G NP_001337084.1:n.459+19C>G
XM_011513473.3:c.1833+19C>G XP_011511775.1:n.1833+19C>G
XM_011513474.3:c.1833+19C>G XP_011511776.1:n.1833+19C>G
XM_011513475.2:c.1614+19C>G XP_011511777.1:n.1614+19C>G
XM_011513476.3:c.1833+19C>G XP_011511778.1:n.1833+19C>G
XM_011513478.2:c.543+19C>G XP_011511780.1:n.543+19C>G
XM_017008284.1:c.777+19C>G XP_016863773.1:n.777+19C>G
XM_017008285.1:c.777+19C>G XP_016863774.1:n.777+19C>G
XM_017008286.1:c.777+19C>G XP_016863775.1:n.777+19C>G
NM_001350154.2:c.777+19C>G NP_001337083.1:n.777+19C>G
NM_001350155.2:c.459+19C>G NP_001337084.1:n.459+19C>G
NM_000283.4:c.1614+19C>G MANE Select NP_000274.3:n.1614+19C>G
NM_001145291.2:c.1614+19C>G NP_001138763.2:n.1614+19C>G
NM_001145292.2:c.777+19C>G NP_001138764.2:n.777+19C>G
NM_001350154.3:c.777+19C>G NP_001337083.1:n.777+19C>G
NM_001350155.3:c.459+19C>G NP_001337084.1:n.459+19C>G
NM_001379246.1:c.777+19C>G NP_001366175.1:n.777+19C>G
NM_001379247.1:c.777+19C>G NP_001366176.1:n.777+19C>G