Canonical Allele Identifier: CA2576693

Gene: ADCY5

Linked Data

• dbSNP Id: rs779498494
• ExAC: 3:123003517 T / C
• gnomAD v2: 3-123003517-T-C
• gnomAD v4: 3-123284670-T-C
• MyVariant Identifiers: chr3:g.123003517T>C (hg19) ; chr3:g.123284670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284670T>C , CM000665.2:g.123284670T>C	GRCh38
NC_000003.11:g.123003517T>C , CM000665.1:g.123003517T>C	GRCh37
NC_000003.10:g.124486207T>C	NCBI36
NG_033882.1:g.168876A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2401A>G	ENSP00000420082.2:p.Lys801Glu
ENST00000470367.2:c.2689A>G	ENSP00000514541.1:p.Lys897Glu
ENST00000483566.2:c.2401A>G	ENSP00000420252.2:p.Lys801Glu
ENST00000699714.1:c.2401A>G	ENSP00000514539.1:p.Lys801Glu
ENST00000699715.1:c.2401A>G	ENSP00000514540.1:p.Lys801Glu
ENST00000699716.1:c.2401A>G	ENSP00000514542.1:p.Lys801Glu
ENST00000699717.1:n.2127A>G
ENST00000699718.1:c.3799A>G	ENSP00000514543.1:p.Lys1267Glu
ENST00000462833.6:c.3724A>G MANE Select	ENSP00000419361.1:p.Lys1242Glu
ENST00000309879.9:c.2674A>G	ENSP00000308685.5:p.Lys892Glu
ENST00000462833.5:c.3724A>G	ENSP00000419361.1:p.Lys1242Glu
ENST00000478092.1:n.494A>G
ENST00000491190.5:c.2698A>G	ENSP00000418537.1:p.Lys900Glu
NM_001199642.1:c.2674A>G	NP_001186571.1:p.Lys892Glu
NM_183357.2:c.3724A>G	NP_899200.1:p.Lys1242Glu
XM_005247077.2:c.3799A>G	XP_005247134.1:p.Lys1267Glu
XM_005247078.1:c.2749A>G	XP_005247135.1:p.Lys917Glu
XM_006713483.1:c.2698A>G	XP_006713546.1:p.Lys900Glu
XM_006713484.1:c.2476A>G	XP_006713547.1:p.Lys826Glu
XM_011512359.1:c.2800A>G	XP_011510661.1:p.Lys934Glu
XM_011512360.1:c.2710A>G	XP_011510662.1:p.Lys904Glu
XM_011512361.1:c.2476A>G	XP_011510663.1:p.Lys826Glu
XM_005247077.4:c.3799A>G	XP_005247134.1:p.Lys1267Glu
XM_011512359.2:c.2800A>G	XP_011510661.1:p.Lys934Glu
XM_011512360.3:c.2710A>G	XP_011510662.1:p.Lys904Glu
XM_017005638.1:c.2701A>G	XP_016861127.1:p.Lys901Glu
XM_017005639.1:c.2701A>G	XP_016861128.1:p.Lys901Glu
NM_001378259.1:c.3799A>G	NP_001365188.1:p.Lys1267Glu
NM_183357.3:c.3724A>G MANE Select	NP_899200.1:p.Lys1242Glu