Canonical Allele Identifier: CA354223877

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 801996
• ClinVar RCV Id: RCV000987316
• dbSNP Id: rs1576526285
• MyVariant Identifiers: chr3:g.123010213T>G (hg19) ; chr3:g.123291366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291366T>G , CM000665.2:g.123291366T>G	GRCh38
NC_000003.11:g.123010213T>G , CM000665.1:g.123010213T>G	GRCh37
NC_000003.10:g.124492903T>G	NCBI36
NG_033882.1:g.162180A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.1751A>C	ENSP00000420082.2:p.Glu584Ala
ENST00000470367.2:c.2039A>C	ENSP00000514541.1:p.Glu680Ala
ENST00000483566.2:c.1751A>C	ENSP00000420252.2:p.Glu584Ala
ENST00000699714.1:c.1751A>C	ENSP00000514539.1:p.Glu584Ala
ENST00000699715.1:c.1751A>C	ENSP00000514540.1:p.Glu584Ala
ENST00000699716.1:c.1751A>C	ENSP00000514542.1:p.Glu584Ala
ENST00000699717.1:n.1477A>C
ENST00000699718.1:c.3149A>C	ENSP00000514543.1:p.Glu1050Ala
ENST00000462833.6:c.3074A>C MANE Select	ENSP00000419361.1:p.Glu1025Ala
ENST00000309879.9:c.2024A>C	ENSP00000308685.5:p.Glu675Ala
ENST00000462833.5:c.3074A>C	ENSP00000419361.1:p.Glu1025Ala
ENST00000491190.5:c.2048A>C	ENSP00000418537.1:p.Glu683Ala
NM_001199642.1:c.2024A>C	NP_001186571.1:p.Glu675Ala
NM_183357.2:c.3074A>C	NP_899200.1:p.Glu1025Ala
XM_005247077.2:c.3149A>C	XP_005247134.1:p.Glu1050Ala
XM_005247078.1:c.2099A>C	XP_005247135.1:p.Glu700Ala
XM_006713483.1:c.2048A>C	XP_006713546.1:p.Glu683Ala
XM_006713484.1:c.1826A>C	XP_006713547.1:p.Glu609Ala
XM_011512359.1:c.2150A>C	XP_011510661.1:p.Glu717Ala
XM_011512360.1:c.2060A>C	XP_011510662.1:p.Glu687Ala
XM_011512361.1:c.1826A>C	XP_011510663.1:p.Glu609Ala
XM_005247077.4:c.3149A>C	XP_005247134.1:p.Glu1050Ala
XM_011512359.2:c.2150A>C	XP_011510661.1:p.Glu717Ala
XM_011512360.3:c.2060A>C	XP_011510662.1:p.Glu687Ala
XM_017005638.1:c.2051A>C	XP_016861127.1:p.Glu684Ala
XM_017005639.1:c.2051A>C	XP_016861128.1:p.Glu684Ala
NM_001378259.1:c.3149A>C	NP_001365188.1:p.Glu1050Ala
NM_183357.3:c.3074A>C MANE Select	NP_899200.1:p.Glu1025Ala