Canonical Allele Identifier: CA346062988

Gene: ADCY3

Linked Data

• dbSNP Id: rs1205009140
• gnomAD v2: 2-25046196-A-G
• gnomAD v4: 2-24823327-A-G
• MyVariant Identifiers: chr2:g.25046196A>G (hg19) ; chr2:g.24823327A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823327A>G , CM000664.2:g.24823327A>G	GRCh38
NC_000002.11:g.25046196A>G , CM000664.1:g.25046196A>G	GRCh37
NC_000002.10:g.24899700A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2768T>C	ENSP00000384484.2:p.Ile923Thr
ENST00000679454.1:c.2765T>C MANE Select	ENSP00000505261.1:p.Ile922Thr
ENST00000260600.9:c.2765T>C	ENSP00000260600.5:p.Ile922Thr
ENST00000405392.5:c.2768T>C	ENSP00000384484.2:p.Ile923Thr
ENST00000485887.1:n.37T>C
ENST00000606682.5:c.1706T>C	ENSP00000475652.1:p.Ile569Thr
NM_004036.3:c.2765T>C	NP_004027.2:p.Ile922Thr
XM_005264104.1:c.2768T>C	XP_005264161.1:p.Ile923Thr
XM_005264105.1:c.2765T>C	XP_005264162.1:p.Ile922Thr
XM_006711925.1:c.2834T>C	XP_006711988.1:p.Ile945Thr
XM_011532489.1:c.2891T>C	XP_011530791.1:p.Ile964Thr
XM_011532490.1:c.2888T>C	XP_011530792.1:p.Ile963Thr
XM_011532491.1:c.2825T>C	XP_011530793.1:p.Ile942Thr
XM_011532492.1:c.2891T>C	XP_011530794.1:p.Ile964Thr
XM_011532493.1:c.2753T>C	XP_011530795.1:p.Ile918Thr
XM_011532494.1:c.2693T>C	XP_011530796.1:p.Ile898Thr
XM_011532495.1:c.2225T>C	XP_011530797.1:p.Ile742Thr
XM_011532496.1:c.2168T>C	XP_011530798.1:p.Ile723Thr
NM_001320613.1:c.2768T>C	NP_001307542.1:p.Ile923Thr
NM_004036.4:c.2765T>C	NP_004027.2:p.Ile922Thr
XM_011532492.2:c.2891T>C	XP_011530794.1:p.Ile964Thr
XM_017003186.1:c.2831T>C	XP_016858675.1:p.Ile944Thr
XM_017003187.1:c.2822T>C	XP_016858676.1:p.Ile941Thr
XM_017003188.1:c.2888T>C	XP_016858677.1:p.Ile963Thr
XM_017003189.1:c.2750T>C	XP_016858678.1:p.Ile917Thr
XM_017003190.1:c.2627T>C	XP_016858679.1:p.Ile876Thr
XM_017003191.1:c.2255T>C	XP_016858680.1:p.Ile752Thr
XM_017003192.1:c.2045T>C	XP_016858681.1:p.Ile682Thr
XM_017003193.1:c.2042T>C	XP_016858682.1:p.Ile681Thr
NM_001320613.2:c.2768T>C	NP_001307542.1:p.Ile923Thr
NM_001377128.1:c.2831T>C	NP_001364057.1:p.Ile944Thr
NM_001377129.1:c.2627T>C	NP_001364058.1:p.Ile876Thr
NM_001377130.1:c.2332-697T>C	NP_001364059.1:n.2332-697T>C
NM_001377131.1:c.2042T>C	NP_001364060.1:p.Ile681Thr
NM_001377132.1:c.2765T>C	NP_001364061.1:p.Ile922Thr
NM_004036.5:c.2765T>C MANE Select	NP_004027.2:p.Ile922Thr