Canonical Allele Identifier: CA354222035

Gene: ADCY5

Linked Data

• dbSNP Id: rs1197894652
• gnomAD v4: 3-123284681-C-A
• MyVariant Identifiers: chr3:g.123003528C>A (hg19) ; chr3:g.123284681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284681C>A , CM000665.2:g.123284681C>A	GRCh38
NC_000003.11:g.123003528C>A , CM000665.1:g.123003528C>A	GRCh37
NC_000003.10:g.124486218C>A	NCBI36
NG_033882.1:g.168865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2390G>T	ENSP00000420082.2:p.Arg797Leu
ENST00000470367.2:c.2678G>T	ENSP00000514541.1:p.Arg893Leu
ENST00000483566.2:c.2390G>T	ENSP00000420252.2:p.Arg797Leu
ENST00000699714.1:c.2390G>T	ENSP00000514539.1:p.Arg797Leu
ENST00000699715.1:c.2390G>T	ENSP00000514540.1:p.Arg797Leu
ENST00000699716.1:c.2390G>T	ENSP00000514542.1:p.Arg797Leu
ENST00000699717.1:n.2116G>T
ENST00000699718.1:c.3788G>T	ENSP00000514543.1:p.Arg1263Leu
ENST00000462833.6:c.3713G>T MANE Select	ENSP00000419361.1:p.Arg1238Leu
ENST00000309879.9:c.2663G>T	ENSP00000308685.5:p.Arg888Leu
ENST00000462833.5:c.3713G>T	ENSP00000419361.1:p.Arg1238Leu
ENST00000478092.1:n.483G>T
ENST00000491190.5:c.2687G>T	ENSP00000418537.1:p.Arg896Leu
NM_001199642.1:c.2663G>T	NP_001186571.1:p.Arg888Leu
NM_183357.2:c.3713G>T	NP_899200.1:p.Arg1238Leu
XM_005247077.2:c.3788G>T	XP_005247134.1:p.Arg1263Leu
XM_005247078.1:c.2738G>T	XP_005247135.1:p.Arg913Leu
XM_006713483.1:c.2687G>T	XP_006713546.1:p.Arg896Leu
XM_006713484.1:c.2465G>T	XP_006713547.1:p.Arg822Leu
XM_011512359.1:c.2789G>T	XP_011510661.1:p.Arg930Leu
XM_011512360.1:c.2699G>T	XP_011510662.1:p.Arg900Leu
XM_011512361.1:c.2465G>T	XP_011510663.1:p.Arg822Leu
XM_005247077.4:c.3788G>T	XP_005247134.1:p.Arg1263Leu
XM_011512359.2:c.2789G>T	XP_011510661.1:p.Arg930Leu
XM_011512360.3:c.2699G>T	XP_011510662.1:p.Arg900Leu
XM_017005638.1:c.2690G>T	XP_016861127.1:p.Arg897Leu
XM_017005639.1:c.2690G>T	XP_016861128.1:p.Arg897Leu
NM_001378259.1:c.3788G>T	NP_001365188.1:p.Arg1263Leu
NM_183357.3:c.3713G>T MANE Select	NP_899200.1:p.Arg1238Leu