Canonical Allele Identifier: CA915943001
Community Standard Title: NM_000283.4(PDE6B):c.1921-9C>G
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.663761C>G , CM000666.2:g.663761C>G GRCh38
NC_000004.11:g.657550C>G , CM000666.1:g.657550C>G GRCh37
NC_000004.10:g.647550C>G NCBI36
NG_009839.1:g.43188C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.1921-9C>G MANE Select NP_000274.3:n.1921-9C>G
ENST00000496514.6:c.1921-9C>G MANE Select ENSP00000420295.1:n.1921-9C>G
NM_000283.3:c.1921-9C>G NP_000274.2:n.1921-9C>G
NM_001145291.1:c.1921-9C>G NP_001138763.1:n.1921-9C>G
NM_001145291.2:c.1921-9C>G NP_001138763.2:n.1921-9C>G
NM_001145292.1:c.1084-9C>G NP_001138764.1:n.1084-9C>G
NM_001145292.2:c.1084-9C>G NP_001138764.2:n.1084-9C>G
NM_001350154.1:c.1084-9C>G NP_001337083.1:n.1084-9C>G
NM_001350154.2:c.1084-9C>G NP_001337083.1:n.1084-9C>G
NM_001350154.3:c.1084-9C>G NP_001337083.1:n.1084-9C>G
NM_001350155.1:c.766-9C>G NP_001337084.1:n.766-9C>G
NM_001350155.2:c.766-9C>G NP_001337084.1:n.766-9C>G
NM_001350155.3:c.766-9C>G NP_001337084.1:n.766-9C>G
NM_001379246.1:c.1084-9C>G NP_001366175.1:n.1084-9C>G
NM_001379247.1:c.1084-9C>G NP_001366176.1:n.1084-9C>G
ENST00000255622.10:c.1921-9C>G ENSP00000255622.6:n.1921-9C>G
ENST00000429163.6:c.1084-9C>G ENSP00000406334.2:n.1084-9C>G
ENST00000460119.1:n.39C>G
ENST00000496514.5:c.1921-9C>G ENSP00000420295.1:n.1921-9C>G
XM_011513473.1:c.2140-9C>G XP_011511775.1:n.2140-9C>G
XM_011513473.3:c.2140-9C>G XP_011511775.1:n.2140-9C>G
XM_011513474.1:c.2140-9C>G XP_011511776.1:n.2140-9C>G
XM_011513474.3:c.2140-9C>G XP_011511776.1:n.2140-9C>G
XM_011513475.1:c.1921-9C>G XP_011511777.1:n.1921-9C>G
XM_011513475.2:c.1921-9C>G XP_011511777.1:n.1921-9C>G
XM_011513476.1:c.2140-9C>G XP_011511778.1:n.2140-9C>G
XM_011513476.3:c.2140-9C>G XP_011511778.1:n.2140-9C>G
XM_011513477.1:c.1126-9C>G XP_011511779.1:n.1126-9C>G
XM_011513478.1:c.850-9C>G XP_011511780.1:n.850-9C>G
XM_011513478.2:c.850-9C>G XP_011511780.1:n.850-9C>G
XM_017008284.1:c.1084-9C>G XP_016863773.1:n.1084-9C>G
XM_017008285.1:c.1084-9C>G XP_016863774.1:n.1084-9C>G
XM_017008286.1:c.1084-9C>G XP_016863775.1:n.1084-9C>G
XR_925029.1:n.87+325G>C