Canonical Allele Identifier: CA2576835

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1965106
• ClinVar RCV Id: RCV002740490
• dbSNP Id: rs759519156
• ExAC: 3:123010115 G / A
• gnomAD v2: 3-123010115-G-A
• gnomAD v4: 3-123291268-G-A
• COSMIC: COSM203102
• MyVariant Identifiers: chr3:g.123010115G>A (hg19) ; chr3:g.123291268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291268G>A , CM000665.2:g.123291268G>A	GRCh38
NC_000003.11:g.123010115G>A , CM000665.1:g.123010115G>A	GRCh37
NC_000003.10:g.124492805G>A	NCBI36
NG_033882.1:g.162278C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.1849C>T	ENSP00000420082.2:p.Arg617Cys
ENST00000470367.2:c.2137C>T	ENSP00000514541.1:p.Arg713Cys
ENST00000483566.2:c.1849C>T	ENSP00000420252.2:p.Arg617Cys
ENST00000699714.1:c.1849C>T	ENSP00000514539.1:p.Arg617Cys
ENST00000699715.1:c.1849C>T	ENSP00000514540.1:p.Arg617Cys
ENST00000699716.1:c.1849C>T	ENSP00000514542.1:p.Arg617Cys
ENST00000699717.1:n.1575C>T
ENST00000699718.1:c.3247C>T	ENSP00000514543.1:p.Arg1083Cys
ENST00000462833.6:c.3172C>T MANE Select	ENSP00000419361.1:p.Arg1058Cys
ENST00000309879.9:c.2122C>T	ENSP00000308685.5:p.Arg708Cys
ENST00000462833.5:c.3172C>T	ENSP00000419361.1:p.Arg1058Cys
ENST00000491190.5:c.2146C>T	ENSP00000418537.1:p.Arg716Cys
NM_001199642.1:c.2122C>T	NP_001186571.1:p.Arg708Cys
NM_183357.2:c.3172C>T	NP_899200.1:p.Arg1058Cys
XM_005247077.2:c.3247C>T	XP_005247134.1:p.Arg1083Cys
XM_005247078.1:c.2197C>T	XP_005247135.1:p.Arg733Cys
XM_006713483.1:c.2146C>T	XP_006713546.1:p.Arg716Cys
XM_006713484.1:c.1924C>T	XP_006713547.1:p.Arg642Cys
XM_011512359.1:c.2248C>T	XP_011510661.1:p.Arg750Cys
XM_011512360.1:c.2158C>T	XP_011510662.1:p.Arg720Cys
XM_011512361.1:c.1924C>T	XP_011510663.1:p.Arg642Cys
XM_005247077.4:c.3247C>T	XP_005247134.1:p.Arg1083Cys
XM_011512359.2:c.2248C>T	XP_011510661.1:p.Arg750Cys
XM_011512360.3:c.2158C>T	XP_011510662.1:p.Arg720Cys
XM_017005638.1:c.2149C>T	XP_016861127.1:p.Arg717Cys
XM_017005639.1:c.2149C>T	XP_016861128.1:p.Arg717Cys
NM_001378259.1:c.3247C>T	NP_001365188.1:p.Arg1083Cys
NM_183357.3:c.3172C>T MANE Select	NP_899200.1:p.Arg1058Cys