Canonical Allele Identifier: CA355916806

Gene: PDE6B

Linked Data

• gnomAD v4: 4-662156-C-T
• MyVariant Identifiers: chr4:g.655945C>T (hg19) ; chr4:g.662156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.662156C>T , CM000666.2:g.662156C>T	GRCh38
NC_000004.11:g.655945C>T , CM000666.1:g.655945C>T	GRCh37
NC_000004.10:g.645945C>T	NCBI36
NG_009839.1:g.41583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.1637C>T MANE Select	ENSP00000420295.1:p.Ser546Phe
ENST00000255622.10:c.1637C>T	ENSP00000255622.6:p.Ser546Phe
ENST00000429163.6:c.800C>T	ENSP00000406334.2:p.Ser267Phe
ENST00000496514.5:c.1637C>T	ENSP00000420295.1:p.Ser546Phe
NM_000283.3:c.1637C>T	NP_000274.2:p.Ser546Phe
NM_001145291.1:c.1637C>T	NP_001138763.1:p.Ser546Phe
NM_001145292.1:c.800C>T	NP_001138764.1:p.Ser267Phe
XM_011513473.1:c.1856C>T	XP_011511775.1:p.Ser619Phe
XM_011513474.1:c.1856C>T	XP_011511776.1:p.Ser619Phe
XM_011513475.1:c.1637C>T	XP_011511777.1:p.Ser546Phe
XM_011513476.1:c.1856C>T	XP_011511778.1:p.Ser619Phe
XM_011513477.1:c.842C>T	XP_011511779.1:p.Ser281Phe
XM_011513478.1:c.566C>T	XP_011511780.1:p.Ser189Phe
XR_925029.1:n.387G>A
NM_001350154.1:c.800C>T	NP_001337083.1:p.Ser267Phe
NM_001350155.1:c.482C>T	NP_001337084.1:p.Ser161Phe
XM_011513473.3:c.1856C>T	XP_011511775.1:p.Ser619Phe
XM_011513474.3:c.1856C>T	XP_011511776.1:p.Ser619Phe
XM_011513475.2:c.1637C>T	XP_011511777.1:p.Ser546Phe
XM_011513476.3:c.1856C>T	XP_011511778.1:p.Ser619Phe
XM_011513478.2:c.566C>T	XP_011511780.1:p.Ser189Phe
XM_017008284.1:c.800C>T	XP_016863773.1:p.Ser267Phe
XM_017008285.1:c.800C>T	XP_016863774.1:p.Ser267Phe
XM_017008286.1:c.800C>T	XP_016863775.1:p.Ser267Phe
NM_001350154.2:c.800C>T	NP_001337083.1:p.Ser267Phe
NM_001350155.2:c.482C>T	NP_001337084.1:p.Ser161Phe
NM_000283.4:c.1637C>T MANE Select	NP_000274.3:p.Ser546Phe
NM_001145291.2:c.1637C>T	NP_001138763.2:p.Ser546Phe
NM_001145292.2:c.800C>T	NP_001138764.2:p.Ser267Phe
NM_001350154.3:c.800C>T	NP_001337083.1:p.Ser267Phe
NM_001350155.3:c.482C>T	NP_001337084.1:p.Ser161Phe
NM_001379246.1:c.800C>T	NP_001366175.1:p.Ser267Phe
NM_001379247.1:c.800C>T	NP_001366176.1:p.Ser267Phe