Canonical Allele Identifier: CA435293085

Gene: ADCY5

Linked Data

• dbSNP Id: rs989505214
• gnomAD v3: 3-123319677-C-T
• gnomAD v4: 3-123319677-C-T
• MyVariant Identifiers: chr3:g.123038524C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123319677C>T , CM000665.2:g.123319677C>T	GRCh38
NC_000003.11:g.123038524C>T , CM000665.1:g.123038524C>T	GRCh37
NC_000003.10:g.124521214C>T	NCBI36
NG_033882.1:g.133869G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000466617.6:c.930G>A	ENSP00000420082.2:p.Lys310=
ENST00000470367.2:c.1218G>A	ENSP00000514541.1:p.Lys406=
ENST00000483566.2:c.930G>A	ENSP00000420252.2:p.Lys310=
ENST00000699714.1:c.930G>A	ENSP00000514539.1:p.Lys310=
ENST00000699715.1:c.930G>A	ENSP00000514540.1:p.Lys310=
ENST00000699716.1:c.930G>A	ENSP00000514542.1:p.Lys310=
ENST00000699718.1:c.2253G>A	ENSP00000514543.1:p.Lys751=
ENST00000699719.1:n.512G>A
ENST00000462833.6:c.2253G>A MANE Select	ENSP00000419361.1:p.Lys751=
ENST00000309879.9:c.1203G>A	ENSP00000308685.5:p.Lys401=
ENST00000462833.5:c.2253G>A	ENSP00000419361.1:p.Lys751=
ENST00000466617.5:c.930G>A	ENSP00000420082.1:p.Lys310=
ENST00000491190.5:c.1152G>A	ENSP00000418537.1:p.Lys384=
NM_001199642.1:c.1203G>A	NP_001186571.1:p.Lys401=
NM_183357.2:c.2253G>A	NP_899200.1:p.Lys751=
XM_005247077.2:c.2253G>A	XP_005247134.1:p.Lys751=
XM_005247078.1:c.1203G>A	XP_005247135.1:p.Lys401=
XM_006713483.1:c.1152G>A	XP_006713546.1:p.Lys384=
XM_006713484.1:c.930G>A	XP_006713547.1:p.Lys310=
XM_011512358.1:c.2253G>A	XP_011510660.1:p.Lys751=
XM_011512359.1:c.1254G>A	XP_011510661.1:p.Lys418=
XM_011512360.1:c.1164G>A	XP_011510662.1:p.Lys388=
XM_011512361.1:c.930G>A	XP_011510663.1:p.Lys310=
XM_005247077.4:c.2253G>A	XP_005247134.1:p.Lys751=
XM_011512359.2:c.1254G>A	XP_011510661.1:p.Lys418=
XM_011512360.3:c.1164G>A	XP_011510662.1:p.Lys388=
XM_017005638.1:c.1155G>A	XP_016861127.1:p.Lys385=
XM_017005639.1:c.1155G>A	XP_016861128.1:p.Lys385=
NM_001378259.1:c.2253G>A	NP_001365188.1:p.Lys751=
NM_183357.3:c.2253G>A MANE Select	NP_899200.1:p.Lys751=