Canonical Allele Identifier: CA355906178
Community Standard Title: NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly)
Gene: PDE6B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.625736A>G , CM000666.2:g.625736A>G GRCh38
NC_000004.11:g.619525A>G , CM000666.1:g.619525A>G GRCh37
NC_000004.10:g.609525A>G NCBI36
NG_009839.1:g.5163A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000283.4:c.110A>G MANE Select NP_000274.3:p.Glu37Gly
ENST00000496514.6:c.110A>G MANE Select ENSP00000420295.1:p.Glu37Gly
NM_000283.3:c.110A>G NP_000274.2:p.Glu37Gly
NM_001145291.1:c.110A>G NP_001138763.1:p.Glu37Gly
NM_001145291.2:c.110A>G NP_001138763.2:p.Glu37Gly
ENST00000255622.10:c.110A>G ENSP00000255622.6:p.Glu37Gly
ENST00000496514.5:c.110A>G ENSP00000420295.1:p.Glu37Gly
XM_011513473.1:c.329A>G XP_011511775.1:p.Glu110Gly
XM_011513473.3:c.329A>G XP_011511775.1:p.Glu110Gly
XM_011513474.1:c.329A>G XP_011511776.1:p.Glu110Gly
XM_011513474.3:c.329A>G XP_011511776.1:p.Glu110Gly
XM_011513475.1:c.110A>G XP_011511777.1:p.Glu37Gly
XM_011513475.2:c.110A>G XP_011511777.1:p.Glu37Gly
XM_011513476.1:c.329A>G XP_011511778.1:p.Glu110Gly
XM_011513476.3:c.329A>G XP_011511778.1:p.Glu110Gly