Canonical Allele Identifier: CA1553604

Gene: ADCY3

Linked Data

• dbSNP Id: rs746758858
• ExAC: 2:25046112 C / T
• gnomAD v2: 2-25046112-C-T
• gnomAD v3: 2-24823243-C-T
• gnomAD v4: 2-24823243-C-T
• MyVariant Identifiers: chr2:g.25046112C>T (hg19) ; chr2:g.24823243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.24823243C>T , CM000664.2:g.24823243C>T	GRCh38
NC_000002.11:g.25046112C>T , CM000664.1:g.25046112C>T	GRCh37
NC_000002.10:g.24899616C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405392.6:c.2852G>A	ENSP00000384484.2:p.Arg951His
ENST00000679454.1:c.2849G>A MANE Select	ENSP00000505261.1:p.Arg950His
ENST00000260600.9:c.2849G>A	ENSP00000260600.5:p.Arg950His
ENST00000405392.5:c.2852G>A	ENSP00000384484.2:p.Arg951His
ENST00000485887.1:n.121G>A
ENST00000606682.5:c.1790G>A	ENSP00000475652.1:p.Arg597His
NM_004036.3:c.2849G>A	NP_004027.2:p.Arg950His
XM_005264104.1:c.2852G>A	XP_005264161.1:p.Arg951His
XM_005264105.1:c.2849G>A	XP_005264162.1:p.Arg950His
XM_006711925.1:c.2918G>A	XP_006711988.1:p.Arg973His
XM_011532489.1:c.2975G>A	XP_011530791.1:p.Arg992His
XM_011532490.1:c.2972G>A	XP_011530792.1:p.Arg991His
XM_011532491.1:c.2909G>A	XP_011530793.1:p.Arg970His
XM_011532492.1:c.2975G>A	XP_011530794.1:p.Arg992His
XM_011532493.1:c.2837G>A	XP_011530795.1:p.Arg946His
XM_011532494.1:c.2777G>A	XP_011530796.1:p.Arg926His
XM_011532495.1:c.2309G>A	XP_011530797.1:p.Arg770His
XM_011532496.1:c.2252G>A	XP_011530798.1:p.Arg751His
NM_001320613.1:c.2852G>A	NP_001307542.1:p.Arg951His
NM_004036.4:c.2849G>A	NP_004027.2:p.Arg950His
XM_011532492.2:c.2975G>A	XP_011530794.1:p.Arg992His
XM_017003186.1:c.2915G>A	XP_016858675.1:p.Arg972His
XM_017003187.1:c.2906G>A	XP_016858676.1:p.Arg969His
XM_017003188.1:c.2972G>A	XP_016858677.1:p.Arg991His
XM_017003189.1:c.2834G>A	XP_016858678.1:p.Arg945His
XM_017003190.1:c.2711G>A	XP_016858679.1:p.Arg904His
XM_017003191.1:c.2339G>A	XP_016858680.1:p.Arg780His
XM_017003192.1:c.2129G>A	XP_016858681.1:p.Arg710His
XM_017003193.1:c.2126G>A	XP_016858682.1:p.Arg709His
NM_001320613.2:c.2852G>A	NP_001307542.1:p.Arg951His
NM_001377128.1:c.2915G>A	NP_001364057.1:p.Arg972His
NM_001377129.1:c.2711G>A	NP_001364058.1:p.Arg904His
NM_001377130.1:c.2332-613G>A	NP_001364059.1:n.2332-613G>A
NM_001377131.1:c.2126G>A	NP_001364060.1:p.Arg709His
NM_001377132.1:c.2849G>A	NP_001364061.1:p.Arg950His
NM_004036.5:c.2849G>A MANE Select	NP_004027.2:p.Arg950His