Canonical Allele Identifier: CA545690315

Gene: ADCY5

Linked Data

• dbSNP Id: rs1398116309
• gnomAD v2: 3-123071242-C-A
• gnomAD v4: 3-123352395-C-A
• MyVariant Identifiers: chr3:g.123071242C>A (hg19) ; chr3:g.123352395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123352395C>A , CM000665.2:g.123352395C>A	GRCh38
NC_000003.11:g.123071242C>A , CM000665.1:g.123071242C>A	GRCh37
NC_000003.10:g.124553932C>A	NCBI36
NG_033882.1:g.101151G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.-40+37G>T	ENSP00000420082.2:n.-40+37G>T
ENST00000470367.2:c.249+37G>T	ENSP00000514541.1:n.249+37G>T
ENST00000483566.2:c.-40+37G>T	ENSP00000420252.2:n.-40+37G>T
ENST00000699714.1:c.-40+37G>T	ENSP00000514539.1:n.-40+37G>T
ENST00000699715.1:c.-40+37G>T	ENSP00000514540.1:n.-40+37G>T
ENST00000699716.1:c.-40+37G>T	ENSP00000514542.1:n.-40+37G>T
ENST00000699718.1:c.1284+37G>T	ENSP00000514543.1:n.1284+37G>T
ENST00000462833.6:c.1284+37G>T MANE Select	ENSP00000419361.1:n.1284+37G>T
ENST00000309879.9:c.234+37G>T	ENSP00000308685.5:n.234+37G>T
ENST00000462833.5:c.1284+37G>T	ENSP00000419361.1:n.1284+37G>T
ENST00000466617.5:c.-40+37G>T	ENSP00000420082.1:n.-40+37G>T
ENST00000476455.1:c.188+37G>T	ENSP00000417789.1:n.188+37G>T
ENST00000483566.1:c.-40+37G>T	ENSP00000420252.1:n.-40+37G>T
ENST00000491190.5:c.183+37G>T	ENSP00000418537.1:n.183+37G>T
NM_001199642.1:c.234+37G>T	NP_001186571.1:n.234+37G>T
NM_183357.2:c.1284+37G>T	NP_899200.1:n.1284+37G>T
XM_005247077.2:c.1284+37G>T	XP_005247134.1:n.1284+37G>T
XM_005247078.1:c.234+37G>T	XP_005247135.1:n.234+37G>T
XM_006713483.1:c.183+37G>T	XP_006713546.1:n.183+37G>T
XM_006713484.1:c.-40+37G>T	XP_006713547.1:n.-40+37G>T
XM_011512358.1:c.1284+37G>T	XP_011510660.1:n.1284+37G>T
XM_011512359.1:c.285+37G>T	XP_011510661.1:n.285+37G>T
XM_011512360.1:c.195+37G>T	XP_011510662.1:n.195+37G>T
XM_011512361.1:c.-40+37G>T	XP_011510663.1:n.-40+37G>T
XM_005247077.4:c.1284+37G>T	XP_005247134.1:n.1284+37G>T
XM_011512359.2:c.285+37G>T	XP_011510661.1:n.285+37G>T
XM_011512360.3:c.195+37G>T	XP_011510662.1:n.195+37G>T
XM_017005638.1:c.186+37G>T	XP_016861127.1:n.186+37G>T
XM_017005639.1:c.186+37G>T	XP_016861128.1:n.186+37G>T
NM_001378259.1:c.1284+37G>T	NP_001365188.1:n.1284+37G>T
NM_183357.3:c.1284+37G>T MANE Select	NP_899200.1:n.1284+37G>T