Canonical Allele Identifier: CA354222184
Gene: ADCY5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123284736C>G , CM000665.2:g.123284736C>G GRCh38
NC_000003.11:g.123003583C>G , CM000665.1:g.123003583C>G GRCh37
NC_000003.10:g.124486273C>G NCBI36
NG_033882.1:g.168810G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.2335G>C ENSP00000420082.2:p.Val779Leu
ENST00000470367.2:c.2623G>C ENSP00000514541.1:p.Val875Leu
ENST00000483566.2:c.2335G>C ENSP00000420252.2:p.Val779Leu
ENST00000699714.1:c.2335G>C ENSP00000514539.1:p.Val779Leu
ENST00000699715.1:c.2335G>C ENSP00000514540.1:p.Val779Leu
ENST00000699716.1:c.2335G>C ENSP00000514542.1:p.Val779Leu
ENST00000699717.1:n.2061G>C
ENST00000699718.1:c.3733G>C ENSP00000514543.1:p.Val1245Leu
ENST00000462833.6:c.3658G>C MANE Select ENSP00000419361.1:p.Val1220Leu
ENST00000309879.9:c.2608G>C ENSP00000308685.5:p.Val870Leu
ENST00000462833.5:c.3658G>C ENSP00000419361.1:p.Val1220Leu
ENST00000478092.1:n.428G>C
ENST00000491190.5:c.2632G>C ENSP00000418537.1:p.Val878Leu
NM_001199642.1:c.2608G>C NP_001186571.1:p.Val870Leu
NM_183357.2:c.3658G>C NP_899200.1:p.Val1220Leu
XM_005247077.2:c.3733G>C XP_005247134.1:p.Val1245Leu
XM_005247078.1:c.2683G>C XP_005247135.1:p.Val895Leu
XM_006713483.1:c.2632G>C XP_006713546.1:p.Val878Leu
XM_006713484.1:c.2410G>C XP_006713547.1:p.Val804Leu
XM_011512359.1:c.2734G>C XP_011510661.1:p.Val912Leu
XM_011512360.1:c.2644G>C XP_011510662.1:p.Val882Leu
XM_011512361.1:c.2410G>C XP_011510663.1:p.Val804Leu
XM_005247077.4:c.3733G>C XP_005247134.1:p.Val1245Leu
XM_011512359.2:c.2734G>C XP_011510661.1:p.Val912Leu
XM_011512360.3:c.2644G>C XP_011510662.1:p.Val882Leu
XM_017005638.1:c.2635G>C XP_016861127.1:p.Val879Leu
XM_017005639.1:c.2635G>C XP_016861128.1:p.Val879Leu
NM_001378259.1:c.3733G>C NP_001365188.1:p.Val1245Leu
NM_183357.3:c.3658G>C MANE Select NP_899200.1:p.Val1220Leu