Canonical Allele Identifier: CA354222133

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123284714-A-T
• MyVariant Identifiers: chr3:g.123003561A>T (hg19) ; chr3:g.123284714A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284714A>T , CM000665.2:g.123284714A>T	GRCh38
NC_000003.11:g.123003561A>T , CM000665.1:g.123003561A>T	GRCh37
NC_000003.10:g.124486251A>T	NCBI36
NG_033882.1:g.168832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2357T>A	ENSP00000420082.2:p.Val786Glu
ENST00000470367.2:c.2645T>A	ENSP00000514541.1:p.Val882Glu
ENST00000483566.2:c.2357T>A	ENSP00000420252.2:p.Val786Glu
ENST00000699714.1:c.2357T>A	ENSP00000514539.1:p.Val786Glu
ENST00000699715.1:c.2357T>A	ENSP00000514540.1:p.Val786Glu
ENST00000699716.1:c.2357T>A	ENSP00000514542.1:p.Val786Glu
ENST00000699717.1:n.2083T>A
ENST00000699718.1:c.3755T>A	ENSP00000514543.1:p.Val1252Glu
ENST00000462833.6:c.3680T>A MANE Select	ENSP00000419361.1:p.Val1227Glu
ENST00000309879.9:c.2630T>A	ENSP00000308685.5:p.Val877Glu
ENST00000462833.5:c.3680T>A	ENSP00000419361.1:p.Val1227Glu
ENST00000478092.1:n.450T>A
ENST00000491190.5:c.2654T>A	ENSP00000418537.1:p.Val885Glu
NM_001199642.1:c.2630T>A	NP_001186571.1:p.Val877Glu
NM_183357.2:c.3680T>A	NP_899200.1:p.Val1227Glu
XM_005247077.2:c.3755T>A	XP_005247134.1:p.Val1252Glu
XM_005247078.1:c.2705T>A	XP_005247135.1:p.Val902Glu
XM_006713483.1:c.2654T>A	XP_006713546.1:p.Val885Glu
XM_006713484.1:c.2432T>A	XP_006713547.1:p.Val811Glu
XM_011512359.1:c.2756T>A	XP_011510661.1:p.Val919Glu
XM_011512360.1:c.2666T>A	XP_011510662.1:p.Val889Glu
XM_011512361.1:c.2432T>A	XP_011510663.1:p.Val811Glu
XM_005247077.4:c.3755T>A	XP_005247134.1:p.Val1252Glu
XM_011512359.2:c.2756T>A	XP_011510661.1:p.Val919Glu
XM_011512360.3:c.2666T>A	XP_011510662.1:p.Val889Glu
XM_017005638.1:c.2657T>A	XP_016861127.1:p.Val886Glu
XM_017005639.1:c.2657T>A	XP_016861128.1:p.Val886Glu
NM_001378259.1:c.3755T>A	NP_001365188.1:p.Val1252Glu
NM_183357.3:c.3680T>A MANE Select	NP_899200.1:p.Val1227Glu