Canonical Allele Identifier: CA437897657

Gene: PDE6B

Linked Data

• MyVariant Identifiers: chr4:g.654267G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.660478G>C , CM000666.2:g.660478G>C	GRCh38
NC_000004.11:g.654267G>C , CM000666.1:g.654267G>C	GRCh37
NC_000004.10:g.644267G>C	NCBI36
NG_009839.1:g.39905G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1479G>C MANE Select	ENSP00000420295.1:p.Leu493=
ENST00000255622.10:c.1479G>C	ENSP00000255622.6:p.Leu493=
ENST00000429163.6:c.642G>C	ENSP00000406334.2:p.Leu214=
ENST00000496514.5:c.1479G>C	ENSP00000420295.1:p.Leu493=
NM_000283.3:c.1479G>C	NP_000274.2:p.Leu493=
NM_001145291.1:c.1479G>C	NP_001138763.1:p.Leu493=
NM_001145292.1:c.642G>C	NP_001138764.1:p.Leu214=
XM_011513473.1:c.1698G>C	XP_011511775.1:p.Leu566=
XM_011513474.1:c.1698G>C	XP_011511776.1:p.Leu566=
XM_011513475.1:c.1479G>C	XP_011511777.1:p.Leu493=
XM_011513476.1:c.1698G>C	XP_011511778.1:p.Leu566=
XM_011513477.1:c.684G>C	XP_011511779.1:p.Leu228=
XM_011513478.1:c.408G>C	XP_011511780.1:p.Leu136=
NM_001350154.1:c.642G>C	NP_001337083.1:p.Leu214=
NM_001350155.1:c.324G>C	NP_001337084.1:p.Leu108=
XM_011513473.3:c.1698G>C	XP_011511775.1:p.Leu566=
XM_011513474.3:c.1698G>C	XP_011511776.1:p.Leu566=
XM_011513475.2:c.1479G>C	XP_011511777.1:p.Leu493=
XM_011513476.3:c.1698G>C	XP_011511778.1:p.Leu566=
XM_011513478.2:c.408G>C	XP_011511780.1:p.Leu136=
XM_017008284.1:c.642G>C	XP_016863773.1:p.Leu214=
XM_017008285.1:c.642G>C	XP_016863774.1:p.Leu214=
XM_017008286.1:c.642G>C	XP_016863775.1:p.Leu214=
NM_001350154.2:c.642G>C	NP_001337083.1:p.Leu214=
NM_001350155.2:c.324G>C	NP_001337084.1:p.Leu108=
NM_000283.4:c.1479G>C MANE Select	NP_000274.3:p.Leu493=
NM_001145291.2:c.1479G>C	NP_001138763.2:p.Leu493=
NM_001145292.2:c.642G>C	NP_001138764.2:p.Leu214=
NM_001350154.3:c.642G>C	NP_001337083.1:p.Leu214=
NM_001350155.3:c.324G>C	NP_001337084.1:p.Leu108=
NM_001379246.1:c.642G>C	NP_001366175.1:p.Leu214=
NM_001379247.1:c.642G>C	NP_001366176.1:p.Leu214=