Canonical Allele Identifier: CA354221935
Gene: ADCY5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1519742
ClinVar RCV Id: RCV002024781
dbSNP Id: rs1553715767

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.123284658T>C , CM000665.2:g.123284658T>C GRCh38
NC_000003.11:g.123003505T>C , CM000665.1:g.123003505T>C GRCh37
NC_000003.10:g.124486195T>C NCBI36
NG_033882.1:g.168888A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000466617.6:c.2413A>G ENSP00000420082.2:p.Lys805Glu
ENST00000470367.2:c.2701A>G ENSP00000514541.1:p.Lys901Glu
ENST00000483566.2:c.2413A>G ENSP00000420252.2:p.Lys805Glu
ENST00000699714.1:c.2413A>G ENSP00000514539.1:p.Lys805Glu
ENST00000699715.1:c.2413A>G ENSP00000514540.1:p.Lys805Glu
ENST00000699716.1:c.2413A>G ENSP00000514542.1:p.Lys805Glu
ENST00000699717.1:n.2139A>G
ENST00000699718.1:c.3811A>G ENSP00000514543.1:p.Lys1271Glu
ENST00000462833.6:c.3736A>G MANE Select ENSP00000419361.1:p.Lys1246Glu
ENST00000309879.9:c.2686A>G ENSP00000308685.5:p.Lys896Glu
ENST00000462833.5:c.3736A>G ENSP00000419361.1:p.Lys1246Glu
ENST00000478092.1:n.506A>G
ENST00000491190.5:c.2710A>G ENSP00000418537.1:p.Lys904Glu
NM_001199642.1:c.2686A>G NP_001186571.1:p.Lys896Glu
NM_183357.2:c.3736A>G NP_899200.1:p.Lys1246Glu
XM_005247077.2:c.3811A>G XP_005247134.1:p.Lys1271Glu
XM_005247078.1:c.2761A>G XP_005247135.1:p.Lys921Glu
XM_006713483.1:c.2710A>G XP_006713546.1:p.Lys904Glu
XM_006713484.1:c.2488A>G XP_006713547.1:p.Lys830Glu
XM_011512359.1:c.2812A>G XP_011510661.1:p.Lys938Glu
XM_011512360.1:c.2722A>G XP_011510662.1:p.Lys908Glu
XM_011512361.1:c.2488A>G XP_011510663.1:p.Lys830Glu
XM_005247077.4:c.3811A>G XP_005247134.1:p.Lys1271Glu
XM_011512359.2:c.2812A>G XP_011510661.1:p.Lys938Glu
XM_011512360.3:c.2722A>G XP_011510662.1:p.Lys908Glu
XM_017005638.1:c.2713A>G XP_016861127.1:p.Lys905Glu
XM_017005639.1:c.2713A>G XP_016861128.1:p.Lys905Glu
NM_001378259.1:c.3811A>G NP_001365188.1:p.Lys1271Glu
NM_183357.3:c.3736A>G MANE Select NP_899200.1:p.Lys1246Glu