Canonical Allele Identifier: CA354223886

Gene: ADCY5

Linked Data

• MyVariant Identifiers: chr3:g.123010216T>G (hg19) ; chr3:g.123291369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291369T>G , CM000665.2:g.123291369T>G	GRCh38
NC_000003.11:g.123010216T>G , CM000665.1:g.123010216T>G	GRCh37
NC_000003.10:g.124492906T>G	NCBI36
NG_033882.1:g.162177A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000466617.6:c.1748A>C	ENSP00000420082.2:p.Glu583Ala
ENST00000470367.2:c.2036A>C	ENSP00000514541.1:p.Glu679Ala
ENST00000483566.2:c.1748A>C	ENSP00000420252.2:p.Glu583Ala
ENST00000699714.1:c.1748A>C	ENSP00000514539.1:p.Glu583Ala
ENST00000699715.1:c.1748A>C	ENSP00000514540.1:p.Glu583Ala
ENST00000699716.1:c.1748A>C	ENSP00000514542.1:p.Glu583Ala
ENST00000699717.1:n.1474A>C
ENST00000699718.1:c.3146A>C	ENSP00000514543.1:p.Glu1049Ala
ENST00000462833.6:c.3071A>C MANE Select	ENSP00000419361.1:p.Glu1024Ala
ENST00000309879.9:c.2021A>C	ENSP00000308685.5:p.Glu674Ala
ENST00000462833.5:c.3071A>C	ENSP00000419361.1:p.Glu1024Ala
ENST00000491190.5:c.2045A>C	ENSP00000418537.1:p.Glu682Ala
NM_001199642.1:c.2021A>C	NP_001186571.1:p.Glu674Ala
NM_183357.2:c.3071A>C	NP_899200.1:p.Glu1024Ala
XM_005247077.2:c.3146A>C	XP_005247134.1:p.Glu1049Ala
XM_005247078.1:c.2096A>C	XP_005247135.1:p.Glu699Ala
XM_006713483.1:c.2045A>C	XP_006713546.1:p.Glu682Ala
XM_006713484.1:c.1823A>C	XP_006713547.1:p.Glu608Ala
XM_011512359.1:c.2147A>C	XP_011510661.1:p.Glu716Ala
XM_011512360.1:c.2057A>C	XP_011510662.1:p.Glu686Ala
XM_011512361.1:c.1823A>C	XP_011510663.1:p.Glu608Ala
XM_005247077.4:c.3146A>C	XP_005247134.1:p.Glu1049Ala
XM_011512359.2:c.2147A>C	XP_011510661.1:p.Glu716Ala
XM_011512360.3:c.2057A>C	XP_011510662.1:p.Glu686Ala
XM_017005638.1:c.2048A>C	XP_016861127.1:p.Glu683Ala
XM_017005639.1:c.2048A>C	XP_016861128.1:p.Glu683Ala
NM_001378259.1:c.3146A>C	NP_001365188.1:p.Glu1049Ala
NM_183357.3:c.3071A>C MANE Select	NP_899200.1:p.Glu1024Ala