Canonical Allele Identifier: CA354217974

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 2808367
• ClinVar RCV Id: RCV003684816
• MyVariant Identifiers: chr3:g.123038632T>G (hg19) ; chr3:g.123319785T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319785T>G , CM000665.2:g.123319785T>G	GRCh38
NC_000003.11:g.123038632T>G , CM000665.1:g.123038632T>G	GRCh37
NC_000003.10:g.124521322T>G	NCBI36
NG_033882.1:g.133761A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.822A>C	ENSP00000420082.2:p.Glu274Asp
ENST00000470367.2:c.1110A>C	ENSP00000514541.1:p.Glu370Asp
ENST00000483566.2:c.822A>C	ENSP00000420252.2:p.Glu274Asp
ENST00000699714.1:c.822A>C	ENSP00000514539.1:p.Glu274Asp
ENST00000699715.1:c.822A>C	ENSP00000514540.1:p.Glu274Asp
ENST00000699716.1:c.822A>C	ENSP00000514542.1:p.Glu274Asp
ENST00000699718.1:c.2145A>C	ENSP00000514543.1:p.Glu715Asp
ENST00000699719.1:n.404A>C
ENST00000462833.6:c.2145A>C MANE Select	ENSP00000419361.1:p.Glu715Asp
ENST00000309879.9:c.1095A>C	ENSP00000308685.5:p.Glu365Asp
ENST00000462833.5:c.2145A>C	ENSP00000419361.1:p.Glu715Asp
ENST00000466617.5:c.822A>C	ENSP00000420082.1:p.Glu274Asp
ENST00000491190.5:c.1044A>C	ENSP00000418537.1:p.Glu348Asp
NM_001199642.1:c.1095A>C	NP_001186571.1:p.Glu365Asp
NM_183357.2:c.2145A>C	NP_899200.1:p.Glu715Asp
XM_005247077.2:c.2145A>C	XP_005247134.1:p.Glu715Asp
XM_005247078.1:c.1095A>C	XP_005247135.1:p.Glu365Asp
XM_006713483.1:c.1044A>C	XP_006713546.1:p.Glu348Asp
XM_006713484.1:c.822A>C	XP_006713547.1:p.Glu274Asp
XM_011512358.1:c.2145A>C	XP_011510660.1:p.Glu715Asp
XM_011512359.1:c.1146A>C	XP_011510661.1:p.Glu382Asp
XM_011512360.1:c.1056A>C	XP_011510662.1:p.Glu352Asp
XM_011512361.1:c.822A>C	XP_011510663.1:p.Glu274Asp
XM_005247077.4:c.2145A>C	XP_005247134.1:p.Glu715Asp
XM_011512359.2:c.1146A>C	XP_011510661.1:p.Glu382Asp
XM_011512360.3:c.1056A>C	XP_011510662.1:p.Glu352Asp
XM_017005638.1:c.1047A>C	XP_016861127.1:p.Glu349Asp
XM_017005639.1:c.1047A>C	XP_016861128.1:p.Glu349Asp
NM_001378259.1:c.2145A>C	NP_001365188.1:p.Glu715Asp
NM_183357.3:c.2145A>C MANE Select	NP_899200.1:p.Glu715Asp