Canonical Allele Identifier: CA10625143

Gene: PDE8B WDR41

Linked Data

• ClinVar Variation Id: 354185
• ClinVar RCV Id: RCV000278043
• dbSNP Id: rs3733953
• gnomAD v2: 5-76722816-A-G
• gnomAD v3: 5-77426991-A-G
• gnomAD v4: 5-77426991-A-G
• MyVariant Identifiers: chr5:g.76722816A>G (hg19) ; chr5:g.77426991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.77426991A>G , CM000667.2:g.77426991A>G	GRCh38
NC_000005.9:g.76722816A>G , CM000667.1:g.76722816A>G	GRCh37
NC_000005.8:g.76758572A>G	NCBI36
NG_023364.1:g.221111A>G
NG_023364.2:g.251740A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264917.10:c.*437A>G (PDE8B) MANE Select	ENSP00000264917.6:n.*437A>G
ENST00000646262.1:c.*437A>G	ENSP00000493971.1:n.*437A>G
ENST00000264917.9:c.*437A>G (PDE8B)	ENSP00000264917.5:n.*437A>G
ENST00000340978.7:c.*437A>G (PDE8B)	ENSP00000345446.3:n.*437A>G
ENST00000346042.7:c.*437A>G (PDE8B)	ENSP00000330428.3:n.*437A>G
ENST00000505283.1:c.*437A>G (PDE8B)	ENSP00000423461.1:n.*437A>G
ENST00000508154.1:n.119T>C (WDR41)
ENST00000512033.1:n.458T>C (WDR41)
ENST00000514878.1:n.107T>C (WDR41)
NM_001029851.2:c.*437A>G (PDE8B)	NP_001025022.1:n.*437A>G
NM_001029852.2:c.*437A>G (PDE8B)	NP_001025023.1:n.*437A>G
NM_001029853.2:c.*437A>G (PDE8B)	NP_001025024.1:n.*437A>G
NM_001029854.2:c.*437A>G (PDE8B)	NP_001025025.1:n.*437A>G
NM_003719.3:c.*437A>G (PDE8B)	NP_003710.1:n.*437A>G
XM_005248621.3:c.*437A>G (PDE8B)	XP_005248678.1:n.*437A>G
XM_005248623.3:c.*437A>G (PDE8B)	XP_005248680.1:n.*437A>G
XM_005248624.3:c.*437A>G (PDE8B)	XP_005248681.1:n.*437A>G
XM_006714725.2:c.*437A>G (PDE8B)	XP_006714788.1:n.*437A>G
XM_006714726.2:c.*437A>G (PDE8B)	XP_006714789.1:n.*437A>G
XM_011543699.1:c.*523A>G (PDE8B)	XP_011542001.1:n.*523A>G
XM_011543700.1:c.*437A>G (PDE8B)	XP_011542002.1:n.*437A>G
XM_011543701.1:c.*437A>G (PDE8B)	XP_011542003.1:n.*437A>G
XM_011543702.1:c.*437A>G (PDE8B)	XP_011542004.1:n.*437A>G
XM_011543703.1:c.*437A>G (PDE8B)	XP_011542005.1:n.*437A>G
XM_011543704.1:c.*437A>G (PDE8B)	XP_011542006.1:n.*437A>G
NM_001349748.1:c.*437A>G (PDE8B)	NP_001336677.1:n.*437A>G
NM_001349749.1:c.*437A>G (PDE8B)	NP_001336678.1:n.*437A>G
NM_001349750.1:c.*437A>G (PDE8B)	NP_001336679.1:n.*437A>G
NM_001349751.1:c.*523A>G (PDE8B)	NP_001336680.1:n.*523A>G
NM_001349752.1:c.*437A>G (PDE8B)	NP_001336681.1:n.*437A>G
NM_001349753.1:c.*437A>G (PDE8B)	NP_001336682.1:n.*437A>G
XM_005248623.4:c.*437A>G (PDE8B)	XP_005248680.1:n.*437A>G
XM_006714726.3:c.*437A>G (PDE8B)	XP_006714789.1:n.*437A>G
XM_011543699.3:c.*523A>G (PDE8B)	XP_011542001.1:n.*523A>G
XM_011543700.3:c.*437A>G (PDE8B)	XP_011542002.1:n.*437A>G
XM_011543704.2:c.*437A>G (PDE8B)	XP_011542006.1:n.*437A>G
XM_017010005.2:c.*437A>G (PDE8B)	XP_016865494.1:n.*437A>G
XM_017010007.2:c.*523A>G (PDE8B)	XP_016865496.1:n.*523A>G
XM_017010008.2:c.*437A>G (PDE8B)	XP_016865497.1:n.*437A>G
XM_024446253.1:c.*437A>G (PDE8B)	XP_024302021.1:n.*437A>G
XM_024446254.1:c.*437A>G (PDE8B)	XP_024302022.1:n.*437A>G
XR_001742140.1:n.1953T>C (WDR41)
NM_001029851.4:c.*437A>G (PDE8B)	NP_001025022.1:n.*437A>G
NM_001029852.4:c.*437A>G (PDE8B)	NP_001025023.1:n.*437A>G
NM_001029853.4:c.*437A>G (PDE8B)	NP_001025024.1:n.*437A>G
NM_001029854.4:c.*437A>G (PDE8B)	NP_001025025.1:n.*437A>G
NM_001349748.3:c.*437A>G (PDE8B)	NP_001336677.1:n.*437A>G
NM_001349749.3:c.*437A>G (PDE8B)	NP_001336678.1:n.*437A>G
NM_001349750.3:c.*437A>G (PDE8B)	NP_001336679.1:n.*437A>G
NM_001349751.3:c.*523A>G (PDE8B)	NP_001336680.1:n.*523A>G
NM_001349752.3:c.*437A>G (PDE8B)	NP_001336681.1:n.*437A>G
NM_001349753.2:c.*437A>G (PDE8B)	NP_001336682.1:n.*437A>G
NM_001376062.1:c.*437A>G (PDE8B)	NP_001362991.1:n.*437A>G
NM_001376063.1:c.*437A>G (PDE8B)	NP_001362992.1:n.*437A>G
NM_001376064.1:c.*437A>G (PDE8B)	NP_001362993.1:n.*437A>G
NM_001376065.1:c.*437A>G (PDE8B)	NP_001362994.1:n.*437A>G
NM_001376066.1:c.*437A>G (PDE8B)	NP_001362995.1:n.*437A>G
NM_001376067.1:c.*437A>G (PDE8B)	NP_001362996.1:n.*437A>G
NM_001376068.1:c.*437A>G (PDE8B)	NP_001362997.1:n.*437A>G
NM_001376069.1:c.*437A>G (PDE8B)	NP_001362998.1:n.*437A>G
NM_001376070.1:c.*437A>G (PDE8B)	NP_001362999.1:n.*437A>G
NM_001376071.1:c.*437A>G (PDE8B)	NP_001363000.1:n.*437A>G
NM_001376072.1:c.*523A>G (PDE8B)	NP_001363001.1:n.*523A>G
NM_001376073.1:c.*437A>G (PDE8B)	NP_001363002.1:n.*437A>G
NM_001376074.1:c.*437A>G (PDE8B)	NP_001363003.1:n.*437A>G
NM_001376075.1:c.*437A>G (PDE8B)	NP_001363004.1:n.*437A>G
NM_003719.5:c.*437A>G (PDE8B) MANE Select	NP_003710.1:n.*437A>G