Canonical Allele Identifier: CA346062602

Gene: ADCY3

Linked Data

• MyVariant Identifiers: chr2:g.25046121T>G (hg19) ; chr2:g.24823252T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823252T>G , CM000664.2:g.24823252T>G	GRCh38
NC_000002.11:g.25046121T>G , CM000664.1:g.25046121T>G	GRCh37
NC_000002.10:g.24899625T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2843A>C	ENSP00000384484.2:p.Glu948Ala
ENST00000679454.1:c.2840A>C MANE Select	ENSP00000505261.1:p.Glu947Ala
ENST00000260600.9:c.2840A>C	ENSP00000260600.5:p.Glu947Ala
ENST00000405392.5:c.2843A>C	ENSP00000384484.2:p.Glu948Ala
ENST00000485887.1:n.112A>C
ENST00000606682.5:c.1781A>C	ENSP00000475652.1:p.Glu594Ala
NM_004036.3:c.2840A>C	NP_004027.2:p.Glu947Ala
XM_005264104.1:c.2843A>C	XP_005264161.1:p.Glu948Ala
XM_005264105.1:c.2840A>C	XP_005264162.1:p.Glu947Ala
XM_006711925.1:c.2909A>C	XP_006711988.1:p.Glu970Ala
XM_011532489.1:c.2966A>C	XP_011530791.1:p.Glu989Ala
XM_011532490.1:c.2963A>C	XP_011530792.1:p.Glu988Ala
XM_011532491.1:c.2900A>C	XP_011530793.1:p.Glu967Ala
XM_011532492.1:c.2966A>C	XP_011530794.1:p.Glu989Ala
XM_011532493.1:c.2828A>C	XP_011530795.1:p.Glu943Ala
XM_011532494.1:c.2768A>C	XP_011530796.1:p.Glu923Ala
XM_011532495.1:c.2300A>C	XP_011530797.1:p.Glu767Ala
XM_011532496.1:c.2243A>C	XP_011530798.1:p.Glu748Ala
NM_001320613.1:c.2843A>C	NP_001307542.1:p.Glu948Ala
NM_004036.4:c.2840A>C	NP_004027.2:p.Glu947Ala
XM_011532492.2:c.2966A>C	XP_011530794.1:p.Glu989Ala
XM_017003186.1:c.2906A>C	XP_016858675.1:p.Glu969Ala
XM_017003187.1:c.2897A>C	XP_016858676.1:p.Glu966Ala
XM_017003188.1:c.2963A>C	XP_016858677.1:p.Glu988Ala
XM_017003189.1:c.2825A>C	XP_016858678.1:p.Glu942Ala
XM_017003190.1:c.2702A>C	XP_016858679.1:p.Glu901Ala
XM_017003191.1:c.2330A>C	XP_016858680.1:p.Glu777Ala
XM_017003192.1:c.2120A>C	XP_016858681.1:p.Glu707Ala
XM_017003193.1:c.2117A>C	XP_016858682.1:p.Glu706Ala
NM_001320613.2:c.2843A>C	NP_001307542.1:p.Glu948Ala
NM_001377128.1:c.2906A>C	NP_001364057.1:p.Glu969Ala
NM_001377129.1:c.2702A>C	NP_001364058.1:p.Glu901Ala
NM_001377130.1:c.2332-622A>C	NP_001364059.1:n.2332-622A>C
NM_001377131.1:c.2117A>C	NP_001364060.1:p.Glu706Ala
NM_001377132.1:c.2840A>C	NP_001364061.1:p.Glu947Ala
NM_004036.5:c.2840A>C MANE Select	NP_004027.2:p.Glu947Ala