Canonical Allele Identifier: CA354222479

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123352432-C-A
• MyVariant Identifiers: chr3:g.123071279C>A (hg19) ; chr3:g.123352432C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123352432C>A , CM000665.2:g.123352432C>A	GRCh38
NC_000003.11:g.123071279C>A , CM000665.1:g.123071279C>A	GRCh37
NC_000003.10:g.124553969C>A	NCBI36
NG_033882.1:g.101114G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.-40G>T	ENSP00000420082.2:n.-40G>T
ENST00000470367.2:c.249G>T	ENSP00000514541.1:p.Gln83His
ENST00000483566.2:c.-40G>T	ENSP00000420252.2:n.-40G>T
ENST00000699714.1:c.-40G>T	ENSP00000514539.1:n.-40G>T
ENST00000699715.1:c.-40G>T	ENSP00000514540.1:n.-40G>T
ENST00000699716.1:c.-40G>T	ENSP00000514542.1:n.-40G>T
ENST00000699718.1:c.1284G>T	ENSP00000514543.1:p.Gln428His
ENST00000462833.6:c.1284G>T MANE Select	ENSP00000419361.1:p.Gln428His
ENST00000309879.9:c.234G>T	ENSP00000308685.5:p.Gln78His
ENST00000462833.5:c.1284G>T	ENSP00000419361.1:p.Gln428His
ENST00000466617.5:c.-40G>T	ENSP00000420082.1:n.-40G>T
ENST00000476455.1:c.188G>T	ENSP00000417789.1:p.Arg63Met
ENST00000483566.1:c.-40G>T	ENSP00000420252.1:n.-40G>T
ENST00000491190.5:c.183G>T	ENSP00000418537.1:p.Gln61His
NM_001199642.1:c.234G>T	NP_001186571.1:p.Gln78His
NM_183357.2:c.1284G>T	NP_899200.1:p.Gln428His
XM_005247077.2:c.1284G>T	XP_005247134.1:p.Gln428His
XM_005247078.1:c.234G>T	XP_005247135.1:p.Gln78His
XM_006713483.1:c.183G>T	XP_006713546.1:p.Gln61His
XM_006713484.1:c.-40G>T	XP_006713547.1:n.-40G>T
XM_011512358.1:c.1284G>T	XP_011510660.1:p.Gln428His
XM_011512359.1:c.285G>T	XP_011510661.1:p.Gln95His
XM_011512360.1:c.195G>T	XP_011510662.1:p.Gln65His
XM_011512361.1:c.-40G>T	XP_011510663.1:n.-40G>T
XM_005247077.4:c.1284G>T	XP_005247134.1:p.Gln428His
XM_011512359.2:c.285G>T	XP_011510661.1:p.Gln95His
XM_011512360.3:c.195G>T	XP_011510662.1:p.Gln65His
XM_017005638.1:c.186G>T	XP_016861127.1:p.Gln62His
XM_017005639.1:c.186G>T	XP_016861128.1:p.Gln62His
NM_001378259.1:c.1284G>T	NP_001365188.1:p.Gln428His
NM_183357.3:c.1284G>T MANE Select	NP_899200.1:p.Gln428His