Canonical Allele Identifier: CA342901
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 162091
dbSNP Id: rs796065306

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123319754C>T , CM000665.2:g.123319754C>T GRCh38
NC_000003.11:g.123038601C>T , CM000665.1:g.123038601C>T GRCh37
NC_000003.10:g.124521291C>T NCBI36
NG_033882.1:g.133792G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000466617.6:c.853G>A ENSP00000420082.2:p.Ala285Thr
ENST00000470367.2:c.1141G>A ENSP00000514541.1:p.Ala381Thr
ENST00000483566.2:c.853G>A ENSP00000420252.2:p.Ala285Thr
ENST00000699714.1:c.853G>A ENSP00000514539.1:p.Ala285Thr
ENST00000699715.1:c.853G>A ENSP00000514540.1:p.Ala285Thr
ENST00000699716.1:c.853G>A ENSP00000514542.1:p.Ala285Thr
ENST00000699718.1:c.2176G>A ENSP00000514543.1:p.Ala726Thr
ENST00000699719.1:n.435G>A
ENST00000462833.6:c.2176G>A MANE Select ENSP00000419361.1:p.Ala726Thr
ENST00000309879.9:c.1126G>A ENSP00000308685.5:p.Ala376Thr
ENST00000462833.5:c.2176G>A ENSP00000419361.1:p.Ala726Thr
ENST00000466617.5:c.853G>A ENSP00000420082.1:p.Ala285Thr
ENST00000491190.5:c.1075G>A ENSP00000418537.1:p.Ala359Thr
NM_001199642.1:c.1126G>A NP_001186571.1:p.Ala376Thr
NM_183357.2:c.2176G>A NP_899200.1:p.Ala726Thr
XM_005247077.2:c.2176G>A XP_005247134.1:p.Ala726Thr
XM_005247078.1:c.1126G>A XP_005247135.1:p.Ala376Thr
XM_006713483.1:c.1075G>A XP_006713546.1:p.Ala359Thr
XM_006713484.1:c.853G>A XP_006713547.1:p.Ala285Thr
XM_011512358.1:c.2176G>A XP_011510660.1:p.Ala726Thr
XM_011512359.1:c.1177G>A XP_011510661.1:p.Ala393Thr
XM_011512360.1:c.1087G>A XP_011510662.1:p.Ala363Thr
XM_011512361.1:c.853G>A XP_011510663.1:p.Ala285Thr
XM_005247077.4:c.2176G>A XP_005247134.1:p.Ala726Thr
XM_011512359.2:c.1177G>A XP_011510661.1:p.Ala393Thr
XM_011512360.3:c.1087G>A XP_011510662.1:p.Ala363Thr
XM_017005638.1:c.1078G>A XP_016861127.1:p.Ala360Thr
XM_017005639.1:c.1078G>A XP_016861128.1:p.Ala360Thr
NM_001378259.1:c.2176G>A NP_001365188.1:p.Ala726Thr
NM_183357.3:c.2176G>A MANE Select NP_899200.1:p.Ala726Thr