Canonical Allele Identifier: CA238578

Gene: PDE6B

Linked Data

• ClinVar Variation Id: 193073
• ClinVar RCV Id: RCV000173097 ; RCV000779449 ; RCV001376247 ; RCV004535181
• dbSNP Id: rs555600300
• ExAC: 4:619714 G / A
• gnomAD v2: 4-619714-G-A
• gnomAD v3: 4-625925-G-A
• gnomAD v4: 4-625925-G-A
• MyVariant Identifiers: chr4:g.619714G>A (hg19) ; chr4:g.625925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.625925G>A , CM000666.2:g.625925G>A	GRCh38
NC_000004.11:g.619714G>A , CM000666.1:g.619714G>A	GRCh37
NC_000004.10:g.609714G>A	NCBI36
NG_009839.1:g.5352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496514.6:c.299G>A MANE Select	ENSP00000420295.1:p.Arg100His
ENST00000255622.10:c.299G>A	ENSP00000255622.6:p.Arg100His
ENST00000496514.5:c.299G>A	ENSP00000420295.1:p.Arg100His
NM_000283.3:c.299G>A	NP_000274.2:p.Arg100His
NM_001145291.1:c.299G>A	NP_001138763.1:p.Arg100His
XM_011513473.1:c.518G>A	XP_011511775.1:p.Arg173His
XM_011513474.1:c.518G>A	XP_011511776.1:p.Arg173His
XM_011513475.1:c.299G>A	XP_011511777.1:p.Arg100His
XM_011513476.1:c.518G>A	XP_011511778.1:p.Arg173His
XM_011513473.3:c.518G>A	XP_011511775.1:p.Arg173His
XM_011513474.3:c.518G>A	XP_011511776.1:p.Arg173His
XM_011513475.2:c.299G>A	XP_011511777.1:p.Arg100His
XM_011513476.3:c.518G>A	XP_011511778.1:p.Arg173His
NM_000283.4:c.299G>A MANE Select	NP_000274.3:p.Arg100His
NM_001145291.2:c.299G>A	NP_001138763.2:p.Arg100His