Canonical Allele Identifier: CA1553616

Gene: ADCY3

Linked Data

• ClinVar Variation Id: 2531152
• ClinVar RCV Id: RCV003246424
• dbSNP Id: rs776200284
• ExAC: 2:25046208 G / A
• gnomAD v2: 2-25046208-G-A
• gnomAD v3: 2-24823339-G-A
• gnomAD v4: 2-24823339-G-A
• COSMIC: COSM4630761
• MyVariant Identifiers: chr2:g.25046208G>A (hg19) ; chr2:g.24823339G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823339G>A , CM000664.2:g.24823339G>A	GRCh38
NC_000002.11:g.25046208G>A , CM000664.1:g.25046208G>A	GRCh37
NC_000002.10:g.24899712G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2756C>T	ENSP00000384484.2:p.Thr919Met
ENST00000679454.1:c.2753C>T MANE Select	ENSP00000505261.1:p.Thr918Met
ENST00000260600.9:c.2753C>T	ENSP00000260600.5:p.Thr918Met
ENST00000405392.5:c.2756C>T	ENSP00000384484.2:p.Thr919Met
ENST00000485887.1:n.25C>T
ENST00000606682.5:c.1694C>T	ENSP00000475652.1:p.Thr565Met
NM_004036.3:c.2753C>T	NP_004027.2:p.Thr918Met
XM_005264104.1:c.2756C>T	XP_005264161.1:p.Thr919Met
XM_005264105.1:c.2753C>T	XP_005264162.1:p.Thr918Met
XM_006711925.1:c.2822C>T	XP_006711988.1:p.Thr941Met
XM_011532489.1:c.2879C>T	XP_011530791.1:p.Thr960Met
XM_011532490.1:c.2876C>T	XP_011530792.1:p.Thr959Met
XM_011532491.1:c.2813C>T	XP_011530793.1:p.Thr938Met
XM_011532492.1:c.2879C>T	XP_011530794.1:p.Thr960Met
XM_011532493.1:c.2741C>T	XP_011530795.1:p.Thr914Met
XM_011532494.1:c.2681C>T	XP_011530796.1:p.Thr894Met
XM_011532495.1:c.2213C>T	XP_011530797.1:p.Thr738Met
XM_011532496.1:c.2156C>T	XP_011530798.1:p.Thr719Met
NM_001320613.1:c.2756C>T	NP_001307542.1:p.Thr919Met
NM_004036.4:c.2753C>T	NP_004027.2:p.Thr918Met
XM_011532492.2:c.2879C>T	XP_011530794.1:p.Thr960Met
XM_017003186.1:c.2819C>T	XP_016858675.1:p.Thr940Met
XM_017003187.1:c.2810C>T	XP_016858676.1:p.Thr937Met
XM_017003188.1:c.2876C>T	XP_016858677.1:p.Thr959Met
XM_017003189.1:c.2738C>T	XP_016858678.1:p.Thr913Met
XM_017003190.1:c.2615C>T	XP_016858679.1:p.Thr872Met
XM_017003191.1:c.2243C>T	XP_016858680.1:p.Thr748Met
XM_017003192.1:c.2033C>T	XP_016858681.1:p.Thr678Met
XM_017003193.1:c.2030C>T	XP_016858682.1:p.Thr677Met
NM_001320613.2:c.2756C>T	NP_001307542.1:p.Thr919Met
NM_001377128.1:c.2819C>T	NP_001364057.1:p.Thr940Met
NM_001377129.1:c.2615C>T	NP_001364058.1:p.Thr872Met
NM_001377130.1:c.2332-709C>T	NP_001364059.1:n.2332-709C>T
NM_001377131.1:c.2030C>T	NP_001364060.1:p.Thr677Met
NM_001377132.1:c.2753C>T	NP_001364061.1:p.Thr918Met
NM_004036.5:c.2753C>T MANE Select	NP_004027.2:p.Thr918Met