Canonical Allele Identifier: CA82899751

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 2987356
• ClinVar RCV Id: RCV003848995
• dbSNP Id: rs945526595
• gnomAD v3: 3-123284652-C-T
• gnomAD v4: 3-123284652-C-T
• MyVariant Identifiers: chr3:g.123003499C>T (hg19) ; chr3:g.123284652C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284652C>T , CM000665.2:g.123284652C>T	GRCh38
NC_000003.11:g.123003499C>T , CM000665.1:g.123003499C>T	GRCh37
NC_000003.10:g.124486189C>T	NCBI36
NG_033882.1:g.168894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2419G>A	ENSP00000420082.2:p.Glu807Lys
ENST00000470367.2:c.2707G>A	ENSP00000514541.1:p.Glu903Lys
ENST00000483566.2:c.2419G>A	ENSP00000420252.2:p.Glu807Lys
ENST00000699714.1:c.2419G>A	ENSP00000514539.1:p.Glu807Lys
ENST00000699715.1:c.2419G>A	ENSP00000514540.1:p.Glu807Lys
ENST00000699716.1:c.2419G>A	ENSP00000514542.1:p.Glu807Lys
ENST00000699717.1:n.2145G>A
ENST00000699718.1:c.3817G>A	ENSP00000514543.1:p.Glu1273Lys
ENST00000462833.6:c.3742G>A MANE Select	ENSP00000419361.1:p.Glu1248Lys
ENST00000309879.9:c.2692G>A	ENSP00000308685.5:p.Glu898Lys
ENST00000462833.5:c.3742G>A	ENSP00000419361.1:p.Glu1248Lys
ENST00000478092.1:n.512G>A
ENST00000491190.5:c.2716G>A	ENSP00000418537.1:p.Glu906Lys
NM_001199642.1:c.2692G>A	NP_001186571.1:p.Glu898Lys
NM_183357.2:c.3742G>A	NP_899200.1:p.Glu1248Lys
XM_005247077.2:c.3817G>A	XP_005247134.1:p.Glu1273Lys
XM_005247078.1:c.2767G>A	XP_005247135.1:p.Glu923Lys
XM_006713483.1:c.2716G>A	XP_006713546.1:p.Glu906Lys
XM_006713484.1:c.2494G>A	XP_006713547.1:p.Glu832Lys
XM_011512359.1:c.2818G>A	XP_011510661.1:p.Glu940Lys
XM_011512360.1:c.2728G>A	XP_011510662.1:p.Glu910Lys
XM_011512361.1:c.2494G>A	XP_011510663.1:p.Glu832Lys
XM_005247077.4:c.3817G>A	XP_005247134.1:p.Glu1273Lys
XM_011512359.2:c.2818G>A	XP_011510661.1:p.Glu940Lys
XM_011512360.3:c.2728G>A	XP_011510662.1:p.Glu910Lys
XM_017005638.1:c.2719G>A	XP_016861127.1:p.Glu907Lys
XM_017005639.1:c.2719G>A	XP_016861128.1:p.Glu907Lys
NM_001378259.1:c.3817G>A	NP_001365188.1:p.Glu1273Lys
NM_183357.3:c.3742G>A MANE Select	NP_899200.1:p.Glu1248Lys