Canonical Allele Identifier: CA347808

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 218355
• ClinVar RCV Id: RCV000202586
• dbSNP Id: rs797045002
• MyVariant Identifiers: chr3:g.123044168C>T (hg19) ; chr3:g.123325321C>T (hg38)
• PubMed: PMID:25521004 ; PMID:25545163

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123325321C>T , CM000665.2:g.123325321C>T	GRCh38
NC_000003.11:g.123044168C>T , CM000665.1:g.123044168C>T	GRCh37
NC_000003.10:g.124526858C>T	NCBI36
NG_033882.1:g.128225G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466617.6:c.765+1G>A	ENSP00000420082.2:n.765+1G>A
ENST00000470367.2:c.1053+1G>A	ENSP00000514541.1:n.1053+1G>A
ENST00000483566.2:c.765+1G>A	ENSP00000420252.2:n.765+1G>A
ENST00000699714.1:c.765+1G>A	ENSP00000514539.1:n.765+1G>A
ENST00000699715.1:c.765+1G>A	ENSP00000514540.1:n.765+1G>A
ENST00000699716.1:c.765+1G>A	ENSP00000514542.1:n.765+1G>A
ENST00000699718.1:c.2088+1G>A	ENSP00000514543.1:n.2088+1G>A
ENST00000699719.1:n.347+1G>A
ENST00000462833.6:c.2088+1G>A MANE Select	ENSP00000419361.1:n.2088+1G>A
ENST00000309879.9:c.1038+1G>A	ENSP00000308685.5:n.1038+1G>A
ENST00000462833.5:c.2088+1G>A	ENSP00000419361.1:n.2088+1G>A
ENST00000466617.5:c.765+1G>A	ENSP00000420082.1:n.765+1G>A
ENST00000491190.5:c.987+1G>A	ENSP00000418537.1:n.987+1G>A
NM_001199642.1:c.1038+1G>A	NP_001186571.1:n.1038+1G>A
NM_183357.2:c.2088+1G>A	NP_899200.1:n.2088+1G>A
XM_005247077.2:c.2088+1G>A	XP_005247134.1:n.2088+1G>A
XM_005247078.1:c.1038+1G>A	XP_005247135.1:n.1038+1G>A
XM_006713483.1:c.987+1G>A	XP_006713546.1:n.987+1G>A
XM_006713484.1:c.765+1G>A	XP_006713547.1:n.765+1G>A
XM_011512358.1:c.2088+1G>A	XP_011510660.1:n.2088+1G>A
XM_011512359.1:c.1089+1G>A	XP_011510661.1:n.1089+1G>A
XM_011512360.1:c.999+1G>A	XP_011510662.1:n.999+1G>A
XM_011512361.1:c.765+1G>A	XP_011510663.1:n.765+1G>A
XM_005247077.4:c.2088+1G>A	XP_005247134.1:n.2088+1G>A
XM_011512359.2:c.1089+1G>A	XP_011510661.1:n.1089+1G>A
XM_011512360.3:c.999+1G>A	XP_011510662.1:n.999+1G>A
XM_017005638.1:c.990+1G>A	XP_016861127.1:n.990+1G>A
XM_017005639.1:c.990+1G>A	XP_016861128.1:n.990+1G>A
NM_001378259.1:c.2088+1G>A	NP_001365188.1:n.2088+1G>A
NM_183357.3:c.2088+1G>A MANE Select	NP_899200.1:n.2088+1G>A