Canonical Allele Identifier: CA425176958
Gene: ADCY3 HGNC NCBI

Linked Data

dbSNP Id: rs1386941952
gnomAD v2: 2-25064205-G-A
gnomAD v3: 2-24841336-G-A
gnomAD v4: 2-24841336-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.24841336G>A , CM000664.2:g.24841336G>A GRCh38
NC_000002.11:g.25064205G>A , CM000664.1:g.25064205G>A GRCh37
NC_000002.10:g.24917709G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000405392.6:c.1119C>T ENSP00000384484.2:p.Ile373=
ENST00000679454.1:c.1119C>T MANE Select ENSP00000505261.1:p.Ile373=
ENST00000260600.9:c.1119C>T ENSP00000260600.5:p.Ile373=
ENST00000405392.5:c.1119C>T ENSP00000384484.2:p.Ile373=
ENST00000427849.5:c.387C>T ENSP00000399275.1:p.Ile129=
ENST00000433852.1:c.453C>T ENSP00000401455.1:p.Ile151=
ENST00000435135.5:c.969C>T ENSP00000389799.1:p.Ile323=
ENST00000479517.1:n.502C>T
ENST00000606682.5:c.132C>T ENSP00000475652.1:p.Ile44=
NM_004036.3:c.1119C>T NP_004027.2:p.Ile373=
XM_005264104.1:c.1119C>T XP_005264161.1:p.Ile373=
XM_005264105.1:c.1119C>T XP_005264162.1:p.Ile373=
XM_006711925.1:c.1119C>T XP_006711988.1:p.Ile373=
XM_011532489.1:c.1119C>T XP_011530791.1:p.Ile373=
XM_011532490.1:c.1119C>T XP_011530792.1:p.Ile373=
XM_011532491.1:c.1119C>T XP_011530793.1:p.Ile373=
XM_011532492.1:c.1119C>T XP_011530794.1:p.Ile373=
XM_011532493.1:c.1119C>T XP_011530795.1:p.Ile373=
XM_011532494.1:c.1119C>T XP_011530796.1:p.Ile373=
XM_011532495.1:c.453C>T XP_011530797.1:p.Ile151=
XM_011532496.1:c.396C>T XP_011530798.1:p.Ile132=
NM_001320613.1:c.1119C>T NP_001307542.1:p.Ile373=
NM_004036.4:c.1119C>T NP_004027.2:p.Ile373=
XM_011532492.2:c.1119C>T XP_011530794.1:p.Ile373=
XM_017003186.1:c.1119C>T XP_016858675.1:p.Ile373=
XM_017003187.1:c.1119C>T XP_016858676.1:p.Ile373=
XM_017003188.1:c.1119C>T XP_016858677.1:p.Ile373=
XM_017003189.1:c.1119C>T XP_016858678.1:p.Ile373=
XM_017003190.1:c.1119C>T XP_016858679.1:p.Ile373=
XM_017003191.1:c.483C>T XP_016858680.1:p.Ile161=
XM_017003192.1:c.396C>T XP_016858681.1:p.Ile132=
XM_017003193.1:c.396C>T XP_016858682.1:p.Ile132=
NM_001320613.2:c.1119C>T NP_001307542.1:p.Ile373=
NM_001377128.1:c.1119C>T NP_001364057.1:p.Ile373=
NM_001377129.1:c.1119C>T NP_001364058.1:p.Ile373=
NM_001377130.1:c.1119C>T NP_001364059.1:p.Ile373=
NM_001377131.1:c.396C>T NP_001364060.1:p.Ile132=
NM_001377132.1:c.1119C>T NP_001364061.1:p.Ile373=
NM_004036.5:c.1119C>T MANE Select NP_004027.2:p.Ile373=