Canonical Allele Identifier: CA354223419
Gene: ADCY5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123291160C>T , CM000665.2:g.123291160C>T GRCh38
NC_000003.11:g.123010007C>T , CM000665.1:g.123010007C>T GRCh37
NC_000003.10:g.124492697C>T NCBI36
NG_033882.1:g.162386G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.1957G>A ENSP00000420082.2:p.Val653Ile
ENST00000470367.2:c.2245G>A ENSP00000514541.1:p.Val749Ile
ENST00000483566.2:c.1957G>A ENSP00000420252.2:p.Val653Ile
ENST00000699714.1:c.1957G>A ENSP00000514539.1:p.Val653Ile
ENST00000699715.1:c.1957G>A ENSP00000514540.1:p.Val653Ile
ENST00000699716.1:c.1957G>A ENSP00000514542.1:p.Val653Ile
ENST00000699717.1:n.1683G>A
ENST00000699718.1:c.3355G>A ENSP00000514543.1:p.Val1119Ile
ENST00000462833.6:c.3280G>A MANE Select ENSP00000419361.1:p.Val1094Ile
ENST00000309879.9:c.2230G>A ENSP00000308685.5:p.Val744Ile
ENST00000462833.5:c.3280G>A ENSP00000419361.1:p.Val1094Ile
ENST00000491190.5:c.2254G>A ENSP00000418537.1:p.Val752Ile
NM_001199642.1:c.2230G>A NP_001186571.1:p.Val744Ile
NM_183357.2:c.3280G>A NP_899200.1:p.Val1094Ile
XM_005247077.2:c.3355G>A XP_005247134.1:p.Val1119Ile
XM_005247078.1:c.2305G>A XP_005247135.1:p.Val769Ile
XM_006713483.1:c.2254G>A XP_006713546.1:p.Val752Ile
XM_006713484.1:c.2032G>A XP_006713547.1:p.Val678Ile
XM_011512359.1:c.2356G>A XP_011510661.1:p.Val786Ile
XM_011512360.1:c.2266G>A XP_011510662.1:p.Val756Ile
XM_011512361.1:c.2032G>A XP_011510663.1:p.Val678Ile
XM_005247077.4:c.3355G>A XP_005247134.1:p.Val1119Ile
XM_011512359.2:c.2356G>A XP_011510661.1:p.Val786Ile
XM_011512360.3:c.2266G>A XP_011510662.1:p.Val756Ile
XM_017005638.1:c.2257G>A XP_016861127.1:p.Val753Ile
XM_017005639.1:c.2257G>A XP_016861128.1:p.Val753Ile
NM_001378259.1:c.3355G>A NP_001365188.1:p.Val1119Ile
NM_183357.3:c.3280G>A MANE Select NP_899200.1:p.Val1094Ile