Canonical Allele Identifier: CA354218548

Gene: ADCY5

Linked Data

• dbSNP Id: rs1489053104
• gnomAD v2: 3-123044267-T-C
• gnomAD v4: 3-123325420-T-C
• MyVariant Identifiers: chr3:g.123044267T>C (hg19) ; chr3:g.123325420T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123325420T>C , CM000665.2:g.123325420T>C	GRCh38
NC_000003.11:g.123044267T>C , CM000665.1:g.123044267T>C	GRCh37
NC_000003.10:g.124526957T>C	NCBI36
NG_033882.1:g.128126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.667A>G	ENSP00000420082.2:p.Thr223Ala
ENST00000470367.2:c.955A>G	ENSP00000514541.1:p.Thr319Ala
ENST00000483566.2:c.667A>G	ENSP00000420252.2:p.Thr223Ala
ENST00000699714.1:c.667A>G	ENSP00000514539.1:p.Thr223Ala
ENST00000699715.1:c.667A>G	ENSP00000514540.1:p.Thr223Ala
ENST00000699716.1:c.667A>G	ENSP00000514542.1:p.Thr223Ala
ENST00000699718.1:c.1990A>G	ENSP00000514543.1:p.Thr664Ala
ENST00000699719.1:n.249A>G
ENST00000462833.6:c.1990A>G MANE Select	ENSP00000419361.1:p.Thr664Ala
ENST00000309879.9:c.940A>G	ENSP00000308685.5:p.Thr314Ala
ENST00000462833.5:c.1990A>G	ENSP00000419361.1:p.Thr664Ala
ENST00000466617.5:c.667A>G	ENSP00000420082.1:p.Thr223Ala
ENST00000491190.5:c.889A>G	ENSP00000418537.1:p.Thr297Ala
NM_001199642.1:c.940A>G	NP_001186571.1:p.Thr314Ala
NM_183357.2:c.1990A>G	NP_899200.1:p.Thr664Ala
XM_005247077.2:c.1990A>G	XP_005247134.1:p.Thr664Ala
XM_005247078.1:c.940A>G	XP_005247135.1:p.Thr314Ala
XM_006713483.1:c.889A>G	XP_006713546.1:p.Thr297Ala
XM_006713484.1:c.667A>G	XP_006713547.1:p.Thr223Ala
XM_011512358.1:c.1990A>G	XP_011510660.1:p.Thr664Ala
XM_011512359.1:c.991A>G	XP_011510661.1:p.Thr331Ala
XM_011512360.1:c.901A>G	XP_011510662.1:p.Thr301Ala
XM_011512361.1:c.667A>G	XP_011510663.1:p.Thr223Ala
XM_005247077.4:c.1990A>G	XP_005247134.1:p.Thr664Ala
XM_011512359.2:c.991A>G	XP_011510661.1:p.Thr331Ala
XM_011512360.3:c.901A>G	XP_011510662.1:p.Thr301Ala
XM_017005638.1:c.892A>G	XP_016861127.1:p.Thr298Ala
XM_017005639.1:c.892A>G	XP_016861128.1:p.Thr298Ala
NM_001378259.1:c.1990A>G	NP_001365188.1:p.Thr664Ala
NM_183357.3:c.1990A>G MANE Select	NP_899200.1:p.Thr664Ala