LDH info

Canonical Allele Identifier: CA273358
Gene: PDE6B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 167440
dbSNP Id: rs727504075

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.664945G>A , CM000666.2:g.664945G>A GRCh38
NC_000004.11:g.658734G>A , CM000666.1:g.658734G>A GRCh37
NC_000004.10:g.648734G>A NCBI36
NG_009839.1:g.44372G>A

Transcript Alleles

HGVS Amino-acid change
NM_000283.3:c.2193+1G>A VV NP_000274.2:p.=
NM_001145291.1:c.2193+1G>A VV NP_001138763.1:p.=
NM_001145292.1:c.1356+1G>A VV NP_001138764.1:p.=
XM_011513473.1:c.2412+1G>A XP_011511775.1:p.=
XM_011513474.1:c.2412+1G>A XP_011511776.1:p.=
XM_011513475.1:c.2193+1G>A XP_011511777.1:p.=
XM_011513476.1:c.2412+1G>A XP_011511778.1:p.=
XM_011513477.1:c.1398+1G>A XP_011511779.1:p.=
XM_011513478.1:c.1122+1G>A XP_011511780.1:p.=
NM_001350154.1:c.1356+1G>A VV NP_001337083.1:p.=
NM_001350155.1:c.1038+1G>A VV NP_001337084.1:p.=
XM_011513473.3:c.2412+1G>A XP_011511775.1:p.=
XM_011513474.3:c.2412+1G>A XP_011511776.1:p.=
XM_011513475.2:c.2193+1G>A XP_011511777.1:p.=
XM_011513476.3:c.2412+1G>A XP_011511778.1:p.=
XM_011513478.2:c.1122+1G>A XP_011511780.1:p.=
XM_017008284.1:c.1356+1G>A XP_016863773.1:p.=
XM_017008285.1:c.1356+1G>A XP_016863774.1:p.=
XM_017008286.1:c.1356+1G>A XP_016863775.1:p.=
ENST00000255622.10:c.2193+1G>A ENSP00000255622.6:p.=
ENST00000429163.6:c.1356+1G>A ENSP00000406334.2:p.=
ENST00000461490.1:n.35+1G>A
ENST00000471824.6:n.273+1G>A ENSP00000417852.2:p.=
ENST00000496514.5:c.2193+1G>A ENSP00000420295.1:p.=