Canonical Allele Identifier: CA2577228
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1984177
ClinVar RCV Id: RCV002775366
dbSNP Id: rs140176741

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123319801G>A , CM000665.2:g.123319801G>A GRCh38
NC_000003.11:g.123038648G>A , CM000665.1:g.123038648G>A GRCh37
NC_000003.10:g.124521338G>A NCBI36
NG_033882.1:g.133745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.806C>T ENSP00000420082.2:p.Ala269Val
ENST00000470367.2:c.1094C>T ENSP00000514541.1:p.Ala365Val
ENST00000483566.2:c.806C>T ENSP00000420252.2:p.Ala269Val
ENST00000699714.1:c.806C>T ENSP00000514539.1:p.Ala269Val
ENST00000699715.1:c.806C>T ENSP00000514540.1:p.Ala269Val
ENST00000699716.1:c.806C>T ENSP00000514542.1:p.Ala269Val
ENST00000699718.1:c.2129C>T ENSP00000514543.1:p.Ala710Val
ENST00000699719.1:n.388C>T
ENST00000462833.6:c.2129C>T MANE Select ENSP00000419361.1:p.Ala710Val
ENST00000309879.9:c.1079C>T ENSP00000308685.5:p.Ala360Val
ENST00000462833.5:c.2129C>T ENSP00000419361.1:p.Ala710Val
ENST00000466617.5:c.806C>T ENSP00000420082.1:p.Ala269Val
ENST00000491190.5:c.1028C>T ENSP00000418537.1:p.Ala343Val
NM_001199642.1:c.1079C>T NP_001186571.1:p.Ala360Val
NM_183357.2:c.2129C>T NP_899200.1:p.Ala710Val
XM_005247077.2:c.2129C>T XP_005247134.1:p.Ala710Val
XM_005247078.1:c.1079C>T XP_005247135.1:p.Ala360Val
XM_006713483.1:c.1028C>T XP_006713546.1:p.Ala343Val
XM_006713484.1:c.806C>T XP_006713547.1:p.Ala269Val
XM_011512358.1:c.2129C>T XP_011510660.1:p.Ala710Val
XM_011512359.1:c.1130C>T XP_011510661.1:p.Ala377Val
XM_011512360.1:c.1040C>T XP_011510662.1:p.Ala347Val
XM_011512361.1:c.806C>T XP_011510663.1:p.Ala269Val
XM_005247077.4:c.2129C>T XP_005247134.1:p.Ala710Val
XM_011512359.2:c.1130C>T XP_011510661.1:p.Ala377Val
XM_011512360.3:c.1040C>T XP_011510662.1:p.Ala347Val
XM_017005638.1:c.1031C>T XP_016861127.1:p.Ala344Val
XM_017005639.1:c.1031C>T XP_016861128.1:p.Ala344Val
NM_001378259.1:c.2129C>T NP_001365188.1:p.Ala710Val
NM_183357.3:c.2129C>T MANE Select NP_899200.1:p.Ala710Val