Canonical Allele Identifier: CA2576690
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1398651
ClinVar RCV Id: RCV001915166
dbSNP Id: rs142247122

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123284645A>G , CM000665.2:g.123284645A>G GRCh38
NC_000003.11:g.123003492A>G , CM000665.1:g.123003492A>G GRCh37
NC_000003.10:g.124486182A>G NCBI36
NG_033882.1:g.168901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.2426T>C ENSP00000420082.2:p.Met809Thr
ENST00000470367.2:c.2714T>C ENSP00000514541.1:p.Met905Thr
ENST00000483566.2:c.2426T>C ENSP00000420252.2:p.Met809Thr
ENST00000699714.1:c.2426T>C ENSP00000514539.1:p.Met809Thr
ENST00000699715.1:c.2426T>C ENSP00000514540.1:p.Met809Thr
ENST00000699716.1:c.2426T>C ENSP00000514542.1:p.Met809Thr
ENST00000699717.1:n.2152T>C
ENST00000699718.1:c.3824T>C ENSP00000514543.1:p.Met1275Thr
ENST00000462833.6:c.3749T>C MANE Select ENSP00000419361.1:p.Met1250Thr
ENST00000309879.9:c.2699T>C ENSP00000308685.5:p.Met900Thr
ENST00000462833.5:c.3749T>C ENSP00000419361.1:p.Met1250Thr
ENST00000478092.1:n.519T>C
ENST00000491190.5:c.2723T>C ENSP00000418537.1:p.Met908Thr
NM_001199642.1:c.2699T>C NP_001186571.1:p.Met900Thr
NM_183357.2:c.3749T>C NP_899200.1:p.Met1250Thr
XM_005247077.2:c.3824T>C XP_005247134.1:p.Met1275Thr
XM_005247078.1:c.2774T>C XP_005247135.1:p.Met925Thr
XM_006713483.1:c.2723T>C XP_006713546.1:p.Met908Thr
XM_006713484.1:c.2501T>C XP_006713547.1:p.Met834Thr
XM_011512359.1:c.2825T>C XP_011510661.1:p.Met942Thr
XM_011512360.1:c.2735T>C XP_011510662.1:p.Met912Thr
XM_011512361.1:c.2501T>C XP_011510663.1:p.Met834Thr
XM_005247077.4:c.3824T>C XP_005247134.1:p.Met1275Thr
XM_011512359.2:c.2825T>C XP_011510661.1:p.Met942Thr
XM_011512360.3:c.2735T>C XP_011510662.1:p.Met912Thr
XM_017005638.1:c.2726T>C XP_016861127.1:p.Met909Thr
XM_017005639.1:c.2726T>C XP_016861128.1:p.Met909Thr
NM_001378259.1:c.3824T>C NP_001365188.1:p.Met1275Thr
NM_183357.3:c.3749T>C MANE Select NP_899200.1:p.Met1250Thr