Canonical Allele Identifier: CA2577300

Gene: ADCY5

Linked Data

• dbSNP Id: rs750188109
• ExAC: 3:123044301 C / T
• gnomAD v2: 3-123044301-C-T
• MyVariant Identifiers: chr3:g.123044301C>T (hg19) ; chr3:g.123325454C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123325454C>T , CM000665.2:g.123325454C>T	GRCh38
NC_000003.11:g.123044301C>T , CM000665.1:g.123044301C>T	GRCh37
NC_000003.10:g.124526991C>T	NCBI36
NG_033882.1:g.128092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.633G>A	ENSP00000420082.2:p.Glu211=
ENST00000470367.2:c.921G>A	ENSP00000514541.1:p.Glu307=
ENST00000483566.2:c.633G>A	ENSP00000420252.2:p.Glu211=
ENST00000699714.1:c.633G>A	ENSP00000514539.1:p.Glu211=
ENST00000699715.1:c.633G>A	ENSP00000514540.1:p.Glu211=
ENST00000699716.1:c.633G>A	ENSP00000514542.1:p.Glu211=
ENST00000699718.1:c.1956G>A	ENSP00000514543.1:p.Glu652=
ENST00000699719.1:n.215G>A
ENST00000462833.6:c.1956G>A MANE Select	ENSP00000419361.1:p.Glu652=
ENST00000309879.9:c.906G>A	ENSP00000308685.5:p.Glu302=
ENST00000462833.5:c.1956G>A	ENSP00000419361.1:p.Glu652=
ENST00000466617.5:c.633G>A	ENSP00000420082.1:p.Glu211=
ENST00000491190.5:c.855G>A	ENSP00000418537.1:p.Glu285=
NM_001199642.1:c.906G>A	NP_001186571.1:p.Glu302=
NM_183357.2:c.1956G>A	NP_899200.1:p.Glu652=
XM_005247077.2:c.1956G>A	XP_005247134.1:p.Glu652=
XM_005247078.1:c.906G>A	XP_005247135.1:p.Glu302=
XM_006713483.1:c.855G>A	XP_006713546.1:p.Glu285=
XM_006713484.1:c.633G>A	XP_006713547.1:p.Glu211=
XM_011512358.1:c.1956G>A	XP_011510660.1:p.Glu652=
XM_011512359.1:c.957G>A	XP_011510661.1:p.Glu319=
XM_011512360.1:c.867G>A	XP_011510662.1:p.Glu289=
XM_011512361.1:c.633G>A	XP_011510663.1:p.Glu211=
XM_005247077.4:c.1956G>A	XP_005247134.1:p.Glu652=
XM_011512359.2:c.957G>A	XP_011510661.1:p.Glu319=
XM_011512360.3:c.867G>A	XP_011510662.1:p.Glu289=
XM_017005638.1:c.858G>A	XP_016861127.1:p.Glu286=
XM_017005639.1:c.858G>A	XP_016861128.1:p.Glu286=
NM_001378259.1:c.1956G>A	NP_001365188.1:p.Glu652=
NM_183357.3:c.1956G>A MANE Select	NP_899200.1:p.Glu652=