Canonical Allele Identifier: CA360176958

Gene: PDE8B

Linked Data

• gnomAD v4: 5-77331417-A-C
• MyVariant Identifiers: chr5:g.76627242A>C (hg19) ; chr5:g.77331417A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.77331417A>C , CM000667.2:g.77331417A>C	GRCh38
NC_000005.9:g.76627242A>C , CM000667.1:g.76627242A>C	GRCh37
NC_000005.8:g.76662998A>C	NCBI36
NG_023364.1:g.125537A>C
NG_023364.2:g.156166A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264917.10:c.666A>C MANE Select	ENSP00000264917.6:p.Glu222Asp
ENST00000646262.1:c.294A>C	ENSP00000493971.1:p.Glu98Asp
ENST00000264917.9:c.666A>C	ENSP00000264917.5:p.Glu222Asp
ENST00000333194.8:c.666A>C	ENSP00000331336.4:p.Glu222Asp
ENST00000340978.7:c.666A>C	ENSP00000345446.3:p.Glu222Asp
ENST00000342343.8:c.606A>C	ENSP00000345646.4:p.Glu202Asp
ENST00000346042.7:c.666A>C	ENSP00000330428.3:p.Glu222Asp
ENST00000502945.1:c.294A>C	ENSP00000426200.1:p.Glu98Asp
ENST00000503963.1:c.-49A>C	ENSP00000422861.1:n.-49A>C
ENST00000505926.5:c.294A>C	ENSP00000425720.1:p.Glu98Asp
NM_001029851.2:c.666A>C	NP_001025022.1:p.Glu222Asp
NM_001029852.2:c.666A>C	NP_001025023.1:p.Glu222Asp
NM_001029853.2:c.606A>C	NP_001025024.1:p.Glu202Asp
NM_001029854.2:c.666A>C	NP_001025025.1:p.Glu222Asp
NM_003719.3:c.666A>C	NP_003710.1:p.Glu222Asp
XM_005248621.3:c.663A>C	XP_005248678.1:p.Glu221Asp
XM_005248623.3:c.363A>C	XP_005248680.1:p.Glu121Asp
XM_005248624.3:c.360A>C	XP_005248681.1:p.Glu120Asp
XM_006714725.2:c.729A>C	XP_006714788.1:p.Glu243Asp
XM_006714726.2:c.726A>C	XP_006714789.1:p.Glu242Asp
XM_011543699.1:c.729A>C	XP_011542001.1:p.Glu243Asp
XM_011543700.1:c.729A>C	XP_011542002.1:p.Glu243Asp
XM_011543701.1:c.426A>C	XP_011542003.1:p.Glu142Asp
XM_011543702.1:c.333A>C	XP_011542004.1:p.Glu111Asp
XM_011543703.1:c.351A>C	XP_011542005.1:p.Glu117Asp
XM_011543704.1:c.-49A>C	XP_011542006.1:n.-49A>C
NM_001349748.1:c.663A>C	NP_001336677.1:p.Glu221Asp
NM_001349749.1:c.729A>C	NP_001336678.1:p.Glu243Asp
NM_001349750.1:c.426A>C	NP_001336679.1:p.Glu142Asp
NM_001349751.1:c.663A>C	NP_001336680.1:p.Glu221Asp
NM_001349752.1:c.360A>C	NP_001336681.1:p.Glu120Asp
NM_001349753.1:c.294A>C	NP_001336682.1:p.Glu98Asp
XM_005248623.4:c.363A>C	XP_005248680.1:p.Glu121Asp
XM_006714726.3:c.726A>C	XP_006714789.1:p.Glu242Asp
XM_011543699.3:c.729A>C	XP_011542001.1:p.Glu243Asp
XM_011543700.3:c.729A>C	XP_011542002.1:p.Glu243Asp
XM_011543704.2:c.-49A>C	XP_011542006.1:n.-49A>C
XM_017010005.2:c.663A>C	XP_016865494.1:p.Glu221Asp
XM_017010007.2:c.363A>C	XP_016865496.1:p.Glu121Asp
XM_017010008.2:c.363A>C	XP_016865497.1:p.Glu121Asp
XM_024446253.1:c.294A>C	XP_024302021.1:p.Glu98Asp
XM_024446254.1:c.294A>C	XP_024302022.1:p.Glu98Asp
NM_001029851.4:c.666A>C	NP_001025022.1:p.Glu222Asp
NM_001029852.4:c.666A>C	NP_001025023.1:p.Glu222Asp
NM_001029853.4:c.606A>C	NP_001025024.1:p.Glu202Asp
NM_001029854.4:c.666A>C	NP_001025025.1:p.Glu222Asp
NM_001349748.3:c.663A>C	NP_001336677.1:p.Glu221Asp
NM_001349749.3:c.729A>C	NP_001336678.1:p.Glu243Asp
NM_001349750.3:c.426A>C	NP_001336679.1:p.Glu142Asp
NM_001349751.3:c.663A>C	NP_001336680.1:p.Glu221Asp
NM_001349752.3:c.360A>C	NP_001336681.1:p.Glu120Asp
NM_001349753.2:c.294A>C	NP_001336682.1:p.Glu98Asp
NM_001376062.1:c.363A>C	NP_001362991.1:p.Glu121Asp
NM_001376063.1:c.666A>C	NP_001362992.1:p.Glu222Asp
NM_001376064.1:c.666A>C	NP_001362993.1:p.Glu222Asp
NM_001376065.1:c.663A>C	NP_001362994.1:p.Glu221Asp
NM_001376066.1:c.303A>C	NP_001362995.1:p.Glu101Asp
NM_001376067.1:c.294A>C	NP_001362996.1:p.Glu98Asp
NM_001376068.1:c.294A>C	NP_001362997.1:p.Glu98Asp
NM_001376069.1:c.423A>C	NP_001362998.1:p.Glu141Asp
NM_001376070.1:c.363A>C	NP_001362999.1:p.Glu121Asp
NM_001376071.1:c.360A>C	NP_001363000.1:p.Glu120Asp
NM_001376072.1:c.363A>C	NP_001363001.1:p.Glu121Asp
NM_001376073.1:c.363A>C	NP_001363002.1:p.Glu121Asp
NM_001376074.1:c.303A>C	NP_001363003.1:p.Glu101Asp
NM_001376075.1:c.294A>C	NP_001363004.1:p.Glu98Asp
NM_003719.5:c.666A>C MANE Select	NP_003710.1:p.Glu222Asp