Canonical Allele Identifier: CA354217900
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2118762
ClinVar RCV Id: RCV003053789

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123319751T>C , CM000665.2:g.123319751T>C GRCh38
NC_000003.11:g.123038598T>C , CM000665.1:g.123038598T>C GRCh37
NC_000003.10:g.124521288T>C NCBI36
NG_033882.1:g.133795A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.856A>G ENSP00000420082.2:p.Arg286Gly
ENST00000470367.2:c.1144A>G ENSP00000514541.1:p.Arg382Gly
ENST00000483566.2:c.856A>G ENSP00000420252.2:p.Arg286Gly
ENST00000699714.1:c.856A>G ENSP00000514539.1:p.Arg286Gly
ENST00000699715.1:c.856A>G ENSP00000514540.1:p.Arg286Gly
ENST00000699716.1:c.856A>G ENSP00000514542.1:p.Arg286Gly
ENST00000699718.1:c.2179A>G ENSP00000514543.1:p.Arg727Gly
ENST00000699719.1:n.438A>G
ENST00000462833.6:c.2179A>G MANE Select ENSP00000419361.1:p.Arg727Gly
ENST00000309879.9:c.1129A>G ENSP00000308685.5:p.Arg377Gly
ENST00000462833.5:c.2179A>G ENSP00000419361.1:p.Arg727Gly
ENST00000466617.5:c.856A>G ENSP00000420082.1:p.Arg286Gly
ENST00000491190.5:c.1078A>G ENSP00000418537.1:p.Arg360Gly
NM_001199642.1:c.1129A>G NP_001186571.1:p.Arg377Gly
NM_183357.2:c.2179A>G NP_899200.1:p.Arg727Gly
XM_005247077.2:c.2179A>G XP_005247134.1:p.Arg727Gly
XM_005247078.1:c.1129A>G XP_005247135.1:p.Arg377Gly
XM_006713483.1:c.1078A>G XP_006713546.1:p.Arg360Gly
XM_006713484.1:c.856A>G XP_006713547.1:p.Arg286Gly
XM_011512358.1:c.2179A>G XP_011510660.1:p.Arg727Gly
XM_011512359.1:c.1180A>G XP_011510661.1:p.Arg394Gly
XM_011512360.1:c.1090A>G XP_011510662.1:p.Arg364Gly
XM_011512361.1:c.856A>G XP_011510663.1:p.Arg286Gly
XM_005247077.4:c.2179A>G XP_005247134.1:p.Arg727Gly
XM_011512359.2:c.1180A>G XP_011510661.1:p.Arg394Gly
XM_011512360.3:c.1090A>G XP_011510662.1:p.Arg364Gly
XM_017005638.1:c.1081A>G XP_016861127.1:p.Arg361Gly
XM_017005639.1:c.1081A>G XP_016861128.1:p.Arg361Gly
NM_001378259.1:c.2179A>G NP_001365188.1:p.Arg727Gly
NM_183357.3:c.2179A>G MANE Select NP_899200.1:p.Arg727Gly