Canonical Allele Identifier: CA2577294

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 2047528
• ClinVar RCV Id: RCV002926874
• dbSNP Id: rs775510502
• ExAC: 3:123044288 C / T
• gnomAD v2: 3-123044288-C-T
• gnomAD v3: 3-123325441-C-T
• gnomAD v4: 3-123325441-C-T
• COSMIC: COSM333181
• MyVariant Identifiers: chr3:g.123044288C>T (hg19) ; chr3:g.123325441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123325441C>T , CM000665.2:g.123325441C>T	GRCh38
NC_000003.11:g.123044288C>T , CM000665.1:g.123044288C>T	GRCh37
NC_000003.10:g.124526978C>T	NCBI36
NG_033882.1:g.128105G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.646G>A	ENSP00000420082.2:p.Ala216Thr
ENST00000470367.2:c.934G>A	ENSP00000514541.1:p.Ala312Thr
ENST00000483566.2:c.646G>A	ENSP00000420252.2:p.Ala216Thr
ENST00000699714.1:c.646G>A	ENSP00000514539.1:p.Ala216Thr
ENST00000699715.1:c.646G>A	ENSP00000514540.1:p.Ala216Thr
ENST00000699716.1:c.646G>A	ENSP00000514542.1:p.Ala216Thr
ENST00000699718.1:c.1969G>A	ENSP00000514543.1:p.Ala657Thr
ENST00000699719.1:n.228G>A
ENST00000462833.6:c.1969G>A MANE Select	ENSP00000419361.1:p.Ala657Thr
ENST00000309879.9:c.919G>A	ENSP00000308685.5:p.Ala307Thr
ENST00000462833.5:c.1969G>A	ENSP00000419361.1:p.Ala657Thr
ENST00000466617.5:c.646G>A	ENSP00000420082.1:p.Ala216Thr
ENST00000491190.5:c.868G>A	ENSP00000418537.1:p.Ala290Thr
NM_001199642.1:c.919G>A	NP_001186571.1:p.Ala307Thr
NM_183357.2:c.1969G>A	NP_899200.1:p.Ala657Thr
XM_005247077.2:c.1969G>A	XP_005247134.1:p.Ala657Thr
XM_005247078.1:c.919G>A	XP_005247135.1:p.Ala307Thr
XM_006713483.1:c.868G>A	XP_006713546.1:p.Ala290Thr
XM_006713484.1:c.646G>A	XP_006713547.1:p.Ala216Thr
XM_011512358.1:c.1969G>A	XP_011510660.1:p.Ala657Thr
XM_011512359.1:c.970G>A	XP_011510661.1:p.Ala324Thr
XM_011512360.1:c.880G>A	XP_011510662.1:p.Ala294Thr
XM_011512361.1:c.646G>A	XP_011510663.1:p.Ala216Thr
XM_005247077.4:c.1969G>A	XP_005247134.1:p.Ala657Thr
XM_011512359.2:c.970G>A	XP_011510661.1:p.Ala324Thr
XM_011512360.3:c.880G>A	XP_011510662.1:p.Ala294Thr
XM_017005638.1:c.871G>A	XP_016861127.1:p.Ala291Thr
XM_017005639.1:c.871G>A	XP_016861128.1:p.Ala291Thr
NM_001378259.1:c.1969G>A	NP_001365188.1:p.Ala657Thr
NM_183357.3:c.1969G>A MANE Select	NP_899200.1:p.Ala657Thr