Canonical Allele Identifier: CA2576696

Gene: ADCY5

Linked Data

• dbSNP Id: rs779816106
• ExAC: 3:123003536 C / T
• gnomAD v4: 3-123284689-C-T
• MyVariant Identifiers: chr3:g.123003536C>T (hg19) ; chr3:g.123284689C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284689C>T , CM000665.2:g.123284689C>T	GRCh38
NC_000003.11:g.123003536C>T , CM000665.1:g.123003536C>T	GRCh37
NC_000003.10:g.124486226C>T	NCBI36
NG_033882.1:g.168857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2382G>A	ENSP00000420082.2:p.Leu794=
ENST00000470367.2:c.2670G>A	ENSP00000514541.1:p.Leu890=
ENST00000483566.2:c.2382G>A	ENSP00000420252.2:p.Leu794=
ENST00000699714.1:c.2382G>A	ENSP00000514539.1:p.Leu794=
ENST00000699715.1:c.2382G>A	ENSP00000514540.1:p.Leu794=
ENST00000699716.1:c.2382G>A	ENSP00000514542.1:p.Leu794=
ENST00000699717.1:n.2108G>A
ENST00000699718.1:c.3780G>A	ENSP00000514543.1:p.Leu1260=
ENST00000462833.6:c.3705G>A MANE Select	ENSP00000419361.1:p.Leu1235=
ENST00000309879.9:c.2655G>A	ENSP00000308685.5:p.Leu885=
ENST00000462833.5:c.3705G>A	ENSP00000419361.1:p.Leu1235=
ENST00000478092.1:n.475G>A
ENST00000491190.5:c.2679G>A	ENSP00000418537.1:p.Leu893=
NM_001199642.1:c.2655G>A	NP_001186571.1:p.Leu885=
NM_183357.2:c.3705G>A	NP_899200.1:p.Leu1235=
XM_005247077.2:c.3780G>A	XP_005247134.1:p.Leu1260=
XM_005247078.1:c.2730G>A	XP_005247135.1:p.Leu910=
XM_006713483.1:c.2679G>A	XP_006713546.1:p.Leu893=
XM_006713484.1:c.2457G>A	XP_006713547.1:p.Leu819=
XM_011512359.1:c.2781G>A	XP_011510661.1:p.Leu927=
XM_011512360.1:c.2691G>A	XP_011510662.1:p.Leu897=
XM_011512361.1:c.2457G>A	XP_011510663.1:p.Leu819=
XM_005247077.4:c.3780G>A	XP_005247134.1:p.Leu1260=
XM_011512359.2:c.2781G>A	XP_011510661.1:p.Leu927=
XM_011512360.3:c.2691G>A	XP_011510662.1:p.Leu897=
XM_017005638.1:c.2682G>A	XP_016861127.1:p.Leu894=
XM_017005639.1:c.2682G>A	XP_016861128.1:p.Leu894=
NM_001378259.1:c.3780G>A	NP_001365188.1:p.Leu1260=
NM_183357.3:c.3705G>A MANE Select	NP_899200.1:p.Leu1235=