Canonical Allele Identifier: CA2576688

Gene: ADCY5

Linked Data

• dbSNP Id: rs753179676
• ExAC: 3:123003484 A / G
• gnomAD v2: 3-123003484-A-G
• gnomAD v4: 3-123284637-A-G
• MyVariant Identifiers: chr3:g.123003484A>G (hg19) ; chr3:g.123284637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284637A>G , CM000665.2:g.123284637A>G	GRCh38
NC_000003.11:g.123003484A>G , CM000665.1:g.123003484A>G	GRCh37
NC_000003.10:g.124486174A>G	NCBI36
NG_033882.1:g.168909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2434T>C	ENSP00000420082.2:p.Phe812Leu
ENST00000470367.2:c.2722T>C	ENSP00000514541.1:p.Phe908Leu
ENST00000483566.2:c.2434T>C	ENSP00000420252.2:p.Phe812Leu
ENST00000699714.1:c.2434T>C	ENSP00000514539.1:p.Phe812Leu
ENST00000699715.1:c.2434T>C	ENSP00000514540.1:p.Phe812Leu
ENST00000699716.1:c.2434T>C	ENSP00000514542.1:p.Phe812Leu
ENST00000699717.1:n.2160T>C
ENST00000699718.1:c.3832T>C	ENSP00000514543.1:p.Phe1278Leu
ENST00000462833.6:c.3757T>C MANE Select	ENSP00000419361.1:p.Phe1253Leu
ENST00000309879.9:c.2707T>C	ENSP00000308685.5:p.Phe903Leu
ENST00000462833.5:c.3757T>C	ENSP00000419361.1:p.Phe1253Leu
ENST00000478092.1:n.527T>C
ENST00000491190.5:c.2731T>C	ENSP00000418537.1:p.Phe911Leu
NM_001199642.1:c.2707T>C	NP_001186571.1:p.Phe903Leu
NM_183357.2:c.3757T>C	NP_899200.1:p.Phe1253Leu
XM_005247077.2:c.3832T>C	XP_005247134.1:p.Phe1278Leu
XM_005247078.1:c.2782T>C	XP_005247135.1:p.Phe928Leu
XM_006713483.1:c.2731T>C	XP_006713546.1:p.Phe911Leu
XM_006713484.1:c.2509T>C	XP_006713547.1:p.Phe837Leu
XM_011512359.1:c.2833T>C	XP_011510661.1:p.Phe945Leu
XM_011512360.1:c.2743T>C	XP_011510662.1:p.Phe915Leu
XM_011512361.1:c.2509T>C	XP_011510663.1:p.Phe837Leu
XM_005247077.4:c.3832T>C	XP_005247134.1:p.Phe1278Leu
XM_011512359.2:c.2833T>C	XP_011510661.1:p.Phe945Leu
XM_011512360.3:c.2743T>C	XP_011510662.1:p.Phe915Leu
XM_017005638.1:c.2734T>C	XP_016861127.1:p.Phe912Leu
XM_017005639.1:c.2734T>C	XP_016861128.1:p.Phe912Leu
NM_001378259.1:c.3832T>C	NP_001365188.1:p.Phe1278Leu
NM_183357.3:c.3757T>C MANE Select	NP_899200.1:p.Phe1253Leu