Canonical Allele Identifier: CA354223390
Gene: ADCY5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123291147C>A , CM000665.2:g.123291147C>A GRCh38
NC_000003.11:g.123009994C>A , CM000665.1:g.123009994C>A GRCh37
NC_000003.10:g.124492684C>A NCBI36
NG_033882.1:g.162399G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.1970G>T ENSP00000420082.2:p.Arg657Leu
ENST00000470367.2:c.2258G>T ENSP00000514541.1:p.Arg753Leu
ENST00000483566.2:c.1970G>T ENSP00000420252.2:p.Arg657Leu
ENST00000699714.1:c.1970G>T ENSP00000514539.1:p.Arg657Leu
ENST00000699715.1:c.1970G>T ENSP00000514540.1:p.Arg657Leu
ENST00000699716.1:c.1970G>T ENSP00000514542.1:p.Arg657Leu
ENST00000699717.1:n.1696G>T
ENST00000699718.1:c.3368G>T ENSP00000514543.1:p.Arg1123Leu
ENST00000462833.6:c.3293G>T MANE Select ENSP00000419361.1:p.Arg1098Leu
ENST00000309879.9:c.2243G>T ENSP00000308685.5:p.Arg748Leu
ENST00000462833.5:c.3293G>T ENSP00000419361.1:p.Arg1098Leu
ENST00000491190.5:c.2267G>T ENSP00000418537.1:p.Arg756Leu
NM_001199642.1:c.2243G>T NP_001186571.1:p.Arg748Leu
NM_183357.2:c.3293G>T NP_899200.1:p.Arg1098Leu
XM_005247077.2:c.3368G>T XP_005247134.1:p.Arg1123Leu
XM_005247078.1:c.2318G>T XP_005247135.1:p.Arg773Leu
XM_006713483.1:c.2267G>T XP_006713546.1:p.Arg756Leu
XM_006713484.1:c.2045G>T XP_006713547.1:p.Arg682Leu
XM_011512359.1:c.2369G>T XP_011510661.1:p.Arg790Leu
XM_011512360.1:c.2279G>T XP_011510662.1:p.Arg760Leu
XM_011512361.1:c.2045G>T XP_011510663.1:p.Arg682Leu
XM_005247077.4:c.3368G>T XP_005247134.1:p.Arg1123Leu
XM_011512359.2:c.2369G>T XP_011510661.1:p.Arg790Leu
XM_011512360.3:c.2279G>T XP_011510662.1:p.Arg760Leu
XM_017005638.1:c.2270G>T XP_016861127.1:p.Arg757Leu
XM_017005639.1:c.2270G>T XP_016861128.1:p.Arg757Leu
NM_001378259.1:c.3368G>T NP_001365188.1:p.Arg1123Leu
NM_183357.3:c.3293G>T MANE Select NP_899200.1:p.Arg1098Leu