Canonical Allele Identifier: CA354223649

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1686395
• ClinVar RCV Id: RCV002246908
• dbSNP Id: rs2108194433
• gnomAD v4: 3-123291260-A-C
• MyVariant Identifiers: chr3:g.123010107A>C (hg19) ; chr3:g.123291260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291260A>C , CM000665.2:g.123291260A>C	GRCh38
NC_000003.11:g.123010107A>C , CM000665.1:g.123010107A>C	GRCh37
NC_000003.10:g.124492797A>C	NCBI36
NG_033882.1:g.162286T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.1857T>G	ENSP00000420082.2:p.Asp619Glu
ENST00000470367.2:c.2145T>G	ENSP00000514541.1:p.Asp715Glu
ENST00000483566.2:c.1857T>G	ENSP00000420252.2:p.Asp619Glu
ENST00000699714.1:c.1857T>G	ENSP00000514539.1:p.Asp619Glu
ENST00000699715.1:c.1857T>G	ENSP00000514540.1:p.Asp619Glu
ENST00000699716.1:c.1857T>G	ENSP00000514542.1:p.Asp619Glu
ENST00000699717.1:n.1583T>G
ENST00000699718.1:c.3255T>G	ENSP00000514543.1:p.Asp1085Glu
ENST00000462833.6:c.3180T>G MANE Select	ENSP00000419361.1:p.Asp1060Glu
ENST00000309879.9:c.2130T>G	ENSP00000308685.5:p.Asp710Glu
ENST00000462833.5:c.3180T>G	ENSP00000419361.1:p.Asp1060Glu
ENST00000491190.5:c.2154T>G	ENSP00000418537.1:p.Asp718Glu
NM_001199642.1:c.2130T>G	NP_001186571.1:p.Asp710Glu
NM_183357.2:c.3180T>G	NP_899200.1:p.Asp1060Glu
XM_005247077.2:c.3255T>G	XP_005247134.1:p.Asp1085Glu
XM_005247078.1:c.2205T>G	XP_005247135.1:p.Asp735Glu
XM_006713483.1:c.2154T>G	XP_006713546.1:p.Asp718Glu
XM_006713484.1:c.1932T>G	XP_006713547.1:p.Asp644Glu
XM_011512359.1:c.2256T>G	XP_011510661.1:p.Asp752Glu
XM_011512360.1:c.2166T>G	XP_011510662.1:p.Asp722Glu
XM_011512361.1:c.1932T>G	XP_011510663.1:p.Asp644Glu
XM_005247077.4:c.3255T>G	XP_005247134.1:p.Asp1085Glu
XM_011512359.2:c.2256T>G	XP_011510661.1:p.Asp752Glu
XM_011512360.3:c.2166T>G	XP_011510662.1:p.Asp722Glu
XM_017005638.1:c.2157T>G	XP_016861127.1:p.Asp719Glu
XM_017005639.1:c.2157T>G	XP_016861128.1:p.Asp719Glu
NM_001378259.1:c.3255T>G	NP_001365188.1:p.Asp1085Glu
NM_183357.3:c.3180T>G MANE Select	NP_899200.1:p.Asp1060Glu