Canonical Allele Identifier: CA2576692

Gene: ADCY5

Linked Data

• dbSNP Id: rs758039365
• ExAC: 3:123003516 T / A
• gnomAD v2: 3-123003516-T-A
• gnomAD v4: 3-123284669-T-A
• MyVariant Identifiers: chr3:g.123003516T>A (hg19) ; chr3:g.123284669T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284669T>A , CM000665.2:g.123284669T>A	GRCh38
NC_000003.11:g.123003516T>A , CM000665.1:g.123003516T>A	GRCh37
NC_000003.10:g.124486206T>A	NCBI36
NG_033882.1:g.168877A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2402A>T	ENSP00000420082.2:p.Lys801Met
ENST00000470367.2:c.2690A>T	ENSP00000514541.1:p.Lys897Met
ENST00000483566.2:c.2402A>T	ENSP00000420252.2:p.Lys801Met
ENST00000699714.1:c.2402A>T	ENSP00000514539.1:p.Lys801Met
ENST00000699715.1:c.2402A>T	ENSP00000514540.1:p.Lys801Met
ENST00000699716.1:c.2402A>T	ENSP00000514542.1:p.Lys801Met
ENST00000699717.1:n.2128A>T
ENST00000699718.1:c.3800A>T	ENSP00000514543.1:p.Lys1267Met
ENST00000462833.6:c.3725A>T MANE Select	ENSP00000419361.1:p.Lys1242Met
ENST00000309879.9:c.2675A>T	ENSP00000308685.5:p.Lys892Met
ENST00000462833.5:c.3725A>T	ENSP00000419361.1:p.Lys1242Met
ENST00000478092.1:n.495A>T
ENST00000491190.5:c.2699A>T	ENSP00000418537.1:p.Lys900Met
NM_001199642.1:c.2675A>T	NP_001186571.1:p.Lys892Met
NM_183357.2:c.3725A>T	NP_899200.1:p.Lys1242Met
XM_005247077.2:c.3800A>T	XP_005247134.1:p.Lys1267Met
XM_005247078.1:c.2750A>T	XP_005247135.1:p.Lys917Met
XM_006713483.1:c.2699A>T	XP_006713546.1:p.Lys900Met
XM_006713484.1:c.2477A>T	XP_006713547.1:p.Lys826Met
XM_011512359.1:c.2801A>T	XP_011510661.1:p.Lys934Met
XM_011512360.1:c.2711A>T	XP_011510662.1:p.Lys904Met
XM_011512361.1:c.2477A>T	XP_011510663.1:p.Lys826Met
XM_005247077.4:c.3800A>T	XP_005247134.1:p.Lys1267Met
XM_011512359.2:c.2801A>T	XP_011510661.1:p.Lys934Met
XM_011512360.3:c.2711A>T	XP_011510662.1:p.Lys904Met
XM_017005638.1:c.2702A>T	XP_016861127.1:p.Lys901Met
XM_017005639.1:c.2702A>T	XP_016861128.1:p.Lys901Met
NM_001378259.1:c.3800A>T	NP_001365188.1:p.Lys1267Met
NM_183357.3:c.3725A>T MANE Select	NP_899200.1:p.Lys1242Met