Canonical Allele Identifier: CA354218310
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 427209
ClinVar RCV Id: RCV000489981
dbSNP Id: rs1085308027

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123325337C>A , CM000665.2:g.123325337C>A GRCh38
NC_000003.11:g.123044184C>A , CM000665.1:g.123044184C>A GRCh37
NC_000003.10:g.124526874C>A NCBI36
NG_033882.1:g.128209G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000466617.6:c.750G>T ENSP00000420082.2:p.Lys250Asn
ENST00000470367.2:c.1038G>T ENSP00000514541.1:p.Lys346Asn
ENST00000483566.2:c.750G>T ENSP00000420252.2:p.Lys250Asn
ENST00000699714.1:c.750G>T ENSP00000514539.1:p.Lys250Asn
ENST00000699715.1:c.750G>T ENSP00000514540.1:p.Lys250Asn
ENST00000699716.1:c.750G>T ENSP00000514542.1:p.Lys250Asn
ENST00000699718.1:c.2073G>T ENSP00000514543.1:p.Lys691Asn
ENST00000699719.1:n.332G>T
ENST00000462833.6:c.2073G>T MANE Select ENSP00000419361.1:p.Lys691Asn
ENST00000309879.9:c.1023G>T ENSP00000308685.5:p.Lys341Asn
ENST00000462833.5:c.2073G>T ENSP00000419361.1:p.Lys691Asn
ENST00000466617.5:c.750G>T ENSP00000420082.1:p.Lys250Asn
ENST00000491190.5:c.972G>T ENSP00000418537.1:p.Lys324Asn
NM_001199642.1:c.1023G>T NP_001186571.1:p.Lys341Asn
NM_183357.2:c.2073G>T NP_899200.1:p.Lys691Asn
XM_005247077.2:c.2073G>T XP_005247134.1:p.Lys691Asn
XM_005247078.1:c.1023G>T XP_005247135.1:p.Lys341Asn
XM_006713483.1:c.972G>T XP_006713546.1:p.Lys324Asn
XM_006713484.1:c.750G>T XP_006713547.1:p.Lys250Asn
XM_011512358.1:c.2073G>T XP_011510660.1:p.Lys691Asn
XM_011512359.1:c.1074G>T XP_011510661.1:p.Lys358Asn
XM_011512360.1:c.984G>T XP_011510662.1:p.Lys328Asn
XM_011512361.1:c.750G>T XP_011510663.1:p.Lys250Asn
XM_005247077.4:c.2073G>T XP_005247134.1:p.Lys691Asn
XM_011512359.2:c.1074G>T XP_011510661.1:p.Lys358Asn
XM_011512360.3:c.984G>T XP_011510662.1:p.Lys328Asn
XM_017005638.1:c.975G>T XP_016861127.1:p.Lys325Asn
XM_017005639.1:c.975G>T XP_016861128.1:p.Lys325Asn
NM_001378259.1:c.2073G>T NP_001365188.1:p.Lys691Asn
NM_183357.3:c.2073G>T MANE Select NP_899200.1:p.Lys691Asn