Canonical Allele Identifier: CA346062606

Gene: ADCY3

Linked Data

• gnomAD v4: 2-24823253-C-G
• MyVariant Identifiers: chr2:g.25046122C>G (hg19) ; chr2:g.24823253C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823253C>G , CM000664.2:g.24823253C>G	GRCh38
NC_000002.11:g.25046122C>G , CM000664.1:g.25046122C>G	GRCh37
NC_000002.10:g.24899626C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2842G>C	ENSP00000384484.2:p.Glu948Gln
ENST00000679454.1:c.2839G>C MANE Select	ENSP00000505261.1:p.Glu947Gln
ENST00000260600.9:c.2839G>C	ENSP00000260600.5:p.Glu947Gln
ENST00000405392.5:c.2842G>C	ENSP00000384484.2:p.Glu948Gln
ENST00000485887.1:n.111G>C
ENST00000606682.5:c.1780G>C	ENSP00000475652.1:p.Glu594Gln
NM_004036.3:c.2839G>C	NP_004027.2:p.Glu947Gln
XM_005264104.1:c.2842G>C	XP_005264161.1:p.Glu948Gln
XM_005264105.1:c.2839G>C	XP_005264162.1:p.Glu947Gln
XM_006711925.1:c.2908G>C	XP_006711988.1:p.Glu970Gln
XM_011532489.1:c.2965G>C	XP_011530791.1:p.Glu989Gln
XM_011532490.1:c.2962G>C	XP_011530792.1:p.Glu988Gln
XM_011532491.1:c.2899G>C	XP_011530793.1:p.Glu967Gln
XM_011532492.1:c.2965G>C	XP_011530794.1:p.Glu989Gln
XM_011532493.1:c.2827G>C	XP_011530795.1:p.Glu943Gln
XM_011532494.1:c.2767G>C	XP_011530796.1:p.Glu923Gln
XM_011532495.1:c.2299G>C	XP_011530797.1:p.Glu767Gln
XM_011532496.1:c.2242G>C	XP_011530798.1:p.Glu748Gln
NM_001320613.1:c.2842G>C	NP_001307542.1:p.Glu948Gln
NM_004036.4:c.2839G>C	NP_004027.2:p.Glu947Gln
XM_011532492.2:c.2965G>C	XP_011530794.1:p.Glu989Gln
XM_017003186.1:c.2905G>C	XP_016858675.1:p.Glu969Gln
XM_017003187.1:c.2896G>C	XP_016858676.1:p.Glu966Gln
XM_017003188.1:c.2962G>C	XP_016858677.1:p.Glu988Gln
XM_017003189.1:c.2824G>C	XP_016858678.1:p.Glu942Gln
XM_017003190.1:c.2701G>C	XP_016858679.1:p.Glu901Gln
XM_017003191.1:c.2329G>C	XP_016858680.1:p.Glu777Gln
XM_017003192.1:c.2119G>C	XP_016858681.1:p.Glu707Gln
XM_017003193.1:c.2116G>C	XP_016858682.1:p.Glu706Gln
NM_001320613.2:c.2842G>C	NP_001307542.1:p.Glu948Gln
NM_001377128.1:c.2905G>C	NP_001364057.1:p.Glu969Gln
NM_001377129.1:c.2701G>C	NP_001364058.1:p.Glu901Gln
NM_001377130.1:c.2332-623G>C	NP_001364059.1:n.2332-623G>C
NM_001377131.1:c.2116G>C	NP_001364060.1:p.Glu706Gln
NM_001377132.1:c.2839G>C	NP_001364061.1:p.Glu947Gln
NM_004036.5:c.2839G>C MANE Select	NP_004027.2:p.Glu947Gln