Canonical Allele Identifier: CA2577214

Gene: ADCY5

Linked Data

• dbSNP Id: rs750481144
• ExAC: 3:123038560 C / A
• gnomAD v2: 3-123038560-C-A
• gnomAD v3: 3-123319713-C-A
• gnomAD v4: 3-123319713-C-A
• MyVariant Identifiers: chr3:g.123038560C>A (hg19) ; chr3:g.123319713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319713C>A , CM000665.2:g.123319713C>A	GRCh38
NC_000003.11:g.123038560C>A , CM000665.1:g.123038560C>A	GRCh37
NC_000003.10:g.124521250C>A	NCBI36
NG_033882.1:g.133833G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.894G>T	ENSP00000420082.2:p.Lys298Asn
ENST00000470367.2:c.1182G>T	ENSP00000514541.1:p.Lys394Asn
ENST00000483566.2:c.894G>T	ENSP00000420252.2:p.Lys298Asn
ENST00000699714.1:c.894G>T	ENSP00000514539.1:p.Lys298Asn
ENST00000699715.1:c.894G>T	ENSP00000514540.1:p.Lys298Asn
ENST00000699716.1:c.894G>T	ENSP00000514542.1:p.Lys298Asn
ENST00000699718.1:c.2217G>T	ENSP00000514543.1:p.Lys739Asn
ENST00000699719.1:n.476G>T
ENST00000462833.6:c.2217G>T MANE Select	ENSP00000419361.1:p.Lys739Asn
ENST00000309879.9:c.1167G>T	ENSP00000308685.5:p.Lys389Asn
ENST00000462833.5:c.2217G>T	ENSP00000419361.1:p.Lys739Asn
ENST00000466617.5:c.894G>T	ENSP00000420082.1:p.Lys298Asn
ENST00000491190.5:c.1116G>T	ENSP00000418537.1:p.Lys372Asn
NM_001199642.1:c.1167G>T	NP_001186571.1:p.Lys389Asn
NM_183357.2:c.2217G>T	NP_899200.1:p.Lys739Asn
XM_005247077.2:c.2217G>T	XP_005247134.1:p.Lys739Asn
XM_005247078.1:c.1167G>T	XP_005247135.1:p.Lys389Asn
XM_006713483.1:c.1116G>T	XP_006713546.1:p.Lys372Asn
XM_006713484.1:c.894G>T	XP_006713547.1:p.Lys298Asn
XM_011512358.1:c.2217G>T	XP_011510660.1:p.Lys739Asn
XM_011512359.1:c.1218G>T	XP_011510661.1:p.Lys406Asn
XM_011512360.1:c.1128G>T	XP_011510662.1:p.Lys376Asn
XM_011512361.1:c.894G>T	XP_011510663.1:p.Lys298Asn
XM_005247077.4:c.2217G>T	XP_005247134.1:p.Lys739Asn
XM_011512359.2:c.1218G>T	XP_011510661.1:p.Lys406Asn
XM_011512360.3:c.1128G>T	XP_011510662.1:p.Lys376Asn
XM_017005638.1:c.1119G>T	XP_016861127.1:p.Lys373Asn
XM_017005639.1:c.1119G>T	XP_016861128.1:p.Lys373Asn
NM_001378259.1:c.2217G>T	NP_001365188.1:p.Lys739Asn
NM_183357.3:c.2217G>T MANE Select	NP_899200.1:p.Lys739Asn