Canonical Allele Identifier: CA435297647

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123284614-G-A
• MyVariant Identifiers: chr3:g.123003461G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284614G>A , CM000665.2:g.123284614G>A	GRCh38
NC_000003.11:g.123003461G>A , CM000665.1:g.123003461G>A	GRCh37
NC_000003.10:g.124486151G>A	NCBI36
NG_033882.1:g.168932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2457C>T	ENSP00000420082.2:p.Leu819=
ENST00000470367.2:c.2745C>T	ENSP00000514541.1:p.Leu915=
ENST00000483566.2:c.2457C>T	ENSP00000420252.2:p.Leu819=
ENST00000699714.1:c.2457C>T	ENSP00000514539.1:p.Leu819=
ENST00000699715.1:c.2457C>T	ENSP00000514540.1:p.Leu819=
ENST00000699716.1:c.2457C>T	ENSP00000514542.1:p.Leu819=
ENST00000699717.1:n.2183C>T
ENST00000699718.1:c.3855C>T	ENSP00000514543.1:p.Leu1285=
ENST00000462833.6:c.3780C>T MANE Select	ENSP00000419361.1:p.Leu1260=
ENST00000309879.9:c.2730C>T	ENSP00000308685.5:p.Leu910=
ENST00000462833.5:c.3780C>T	ENSP00000419361.1:p.Leu1260=
ENST00000478092.1:n.550C>T
ENST00000491190.5:c.2754C>T	ENSP00000418537.1:p.Leu918=
NM_001199642.1:c.2730C>T	NP_001186571.1:p.Leu910=
NM_183357.2:c.3780C>T	NP_899200.1:p.Leu1260=
XM_005247077.2:c.3855C>T	XP_005247134.1:p.Leu1285=
XM_005247078.1:c.2805C>T	XP_005247135.1:p.Leu935=
XM_006713483.1:c.2754C>T	XP_006713546.1:p.Leu918=
XM_006713484.1:c.2532C>T	XP_006713547.1:p.Leu844=
XM_011512359.1:c.2856C>T	XP_011510661.1:p.Leu952=
XM_011512360.1:c.2766C>T	XP_011510662.1:p.Leu922=
XM_011512361.1:c.2532C>T	XP_011510663.1:p.Leu844=
XM_005247077.4:c.3855C>T	XP_005247134.1:p.Leu1285=
XM_011512359.2:c.2856C>T	XP_011510661.1:p.Leu952=
XM_011512360.3:c.2766C>T	XP_011510662.1:p.Leu922=
XM_017005638.1:c.2757C>T	XP_016861127.1:p.Leu919=
XM_017005639.1:c.2757C>T	XP_016861128.1:p.Leu919=
NM_001378259.1:c.3855C>T	NP_001365188.1:p.Leu1285=
NM_183357.3:c.3780C>T MANE Select	NP_899200.1:p.Leu1260=