Canonical Allele Identifier: CA355908177

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.634718C>G , CM000666.2:g.634718C>G	GRCh38
NC_000004.11:g.628507C>G , CM000666.1:g.628507C>G	GRCh37
NC_000004.10:g.618507C>G	NCBI36
NG_009839.1:g.14145C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.510C>G MANE Select	NP_000274.3:p.Tyr170Ter
ENST00000496514.6:c.510C>G MANE Select	ENSP00000420295.1:p.Tyr170Ter
NM_000283.3:c.510C>G	NP_000274.2:p.Tyr170Ter
NM_001145291.1:c.510C>G	NP_001138763.1:p.Tyr170Ter
NM_001145291.2:c.510C>G	NP_001138763.2:p.Tyr170Ter
ENST00000255622.10:c.510C>G	ENSP00000255622.6:p.Tyr170Ter
ENST00000496514.5:c.510C>G	ENSP00000420295.1:p.Tyr170Ter
XM_011513473.1:c.729C>G	XP_011511775.1:p.Tyr243Ter
XM_011513473.3:c.729C>G	XP_011511775.1:p.Tyr243Ter
XM_011513474.1:c.729C>G	XP_011511776.1:p.Tyr243Ter
XM_011513474.3:c.729C>G	XP_011511776.1:p.Tyr243Ter
XM_011513475.1:c.510C>G	XP_011511777.1:p.Tyr170Ter
XM_011513475.2:c.510C>G	XP_011511777.1:p.Tyr170Ter
XM_011513476.1:c.729C>G	XP_011511778.1:p.Tyr243Ter
XM_011513476.3:c.729C>G	XP_011511778.1:p.Tyr243Ter