Canonical Allele Identifier: CA2577232

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 1580214
• ClinVar RCV Id: RCV002094761
• dbSNP Id: rs150253262
• ExAC: 3:123038662 G / A
• gnomAD v2: 3-123038662-G-A
• gnomAD v3: 3-123319815-G-A
• gnomAD v4: 3-123319815-G-A
• MyVariant Identifiers: chr3:g.123038662G>A (hg19) ; chr3:g.123319815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319815G>A , CM000665.2:g.123319815G>A	GRCh38
NC_000003.11:g.123038662G>A , CM000665.1:g.123038662G>A	GRCh37
NC_000003.10:g.124521352G>A	NCBI36
NG_033882.1:g.133731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.792C>T	ENSP00000420082.2:p.Asn264=
ENST00000470367.2:c.1080C>T	ENSP00000514541.1:p.Asn360=
ENST00000483566.2:c.792C>T	ENSP00000420252.2:p.Asn264=
ENST00000699714.1:c.792C>T	ENSP00000514539.1:p.Asn264=
ENST00000699715.1:c.792C>T	ENSP00000514540.1:p.Asn264=
ENST00000699716.1:c.792C>T	ENSP00000514542.1:p.Asn264=
ENST00000699718.1:c.2115C>T	ENSP00000514543.1:p.Asn705=
ENST00000699719.1:n.374C>T
ENST00000462833.6:c.2115C>T MANE Select	ENSP00000419361.1:p.Asn705=
ENST00000309879.9:c.1065C>T	ENSP00000308685.5:p.Asn355=
ENST00000462833.5:c.2115C>T	ENSP00000419361.1:p.Asn705=
ENST00000466617.5:c.792C>T	ENSP00000420082.1:p.Asn264=
ENST00000491190.5:c.1014C>T	ENSP00000418537.1:p.Asn338=
NM_001199642.1:c.1065C>T	NP_001186571.1:p.Asn355=
NM_183357.2:c.2115C>T	NP_899200.1:p.Asn705=
XM_005247077.2:c.2115C>T	XP_005247134.1:p.Asn705=
XM_005247078.1:c.1065C>T	XP_005247135.1:p.Asn355=
XM_006713483.1:c.1014C>T	XP_006713546.1:p.Asn338=
XM_006713484.1:c.792C>T	XP_006713547.1:p.Asn264=
XM_011512358.1:c.2115C>T	XP_011510660.1:p.Asn705=
XM_011512359.1:c.1116C>T	XP_011510661.1:p.Asn372=
XM_011512360.1:c.1026C>T	XP_011510662.1:p.Asn342=
XM_011512361.1:c.792C>T	XP_011510663.1:p.Asn264=
XM_005247077.4:c.2115C>T	XP_005247134.1:p.Asn705=
XM_011512359.2:c.1116C>T	XP_011510661.1:p.Asn372=
XM_011512360.3:c.1026C>T	XP_011510662.1:p.Asn342=
XM_017005638.1:c.1017C>T	XP_016861127.1:p.Asn339=
XM_017005639.1:c.1017C>T	XP_016861128.1:p.Asn339=
NM_001378259.1:c.2115C>T	NP_001365188.1:p.Asn705=
NM_183357.3:c.2115C>T MANE Select	NP_899200.1:p.Asn705=