Canonical Allele Identifier: CA354223827

Gene: ADCY5

Linked Data

• gnomAD v4: 3-123291347-C-G
• MyVariant Identifiers: chr3:g.123010194C>G (hg19) ; chr3:g.123291347C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123291347C>G , CM000665.2:g.123291347C>G	GRCh38
NC_000003.11:g.123010194C>G , CM000665.1:g.123010194C>G	GRCh37
NC_000003.10:g.124492884C>G	NCBI36
NG_033882.1:g.162199G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.1770G>C	ENSP00000420082.2:p.Glu590Asp
ENST00000470367.2:c.2058G>C	ENSP00000514541.1:p.Glu686Asp
ENST00000483566.2:c.1770G>C	ENSP00000420252.2:p.Glu590Asp
ENST00000699714.1:c.1770G>C	ENSP00000514539.1:p.Glu590Asp
ENST00000699715.1:c.1770G>C	ENSP00000514540.1:p.Glu590Asp
ENST00000699716.1:c.1770G>C	ENSP00000514542.1:p.Glu590Asp
ENST00000699717.1:n.1496G>C
ENST00000699718.1:c.3168G>C	ENSP00000514543.1:p.Glu1056Asp
ENST00000462833.6:c.3093G>C MANE Select	ENSP00000419361.1:p.Glu1031Asp
ENST00000309879.9:c.2043G>C	ENSP00000308685.5:p.Glu681Asp
ENST00000462833.5:c.3093G>C	ENSP00000419361.1:p.Glu1031Asp
ENST00000491190.5:c.2067G>C	ENSP00000418537.1:p.Glu689Asp
NM_001199642.1:c.2043G>C	NP_001186571.1:p.Glu681Asp
NM_183357.2:c.3093G>C	NP_899200.1:p.Glu1031Asp
XM_005247077.2:c.3168G>C	XP_005247134.1:p.Glu1056Asp
XM_005247078.1:c.2118G>C	XP_005247135.1:p.Glu706Asp
XM_006713483.1:c.2067G>C	XP_006713546.1:p.Glu689Asp
XM_006713484.1:c.1845G>C	XP_006713547.1:p.Glu615Asp
XM_011512359.1:c.2169G>C	XP_011510661.1:p.Glu723Asp
XM_011512360.1:c.2079G>C	XP_011510662.1:p.Glu693Asp
XM_011512361.1:c.1845G>C	XP_011510663.1:p.Glu615Asp
XM_005247077.4:c.3168G>C	XP_005247134.1:p.Glu1056Asp
XM_011512359.2:c.2169G>C	XP_011510661.1:p.Glu723Asp
XM_011512360.3:c.2079G>C	XP_011510662.1:p.Glu693Asp
XM_017005638.1:c.2070G>C	XP_016861127.1:p.Glu690Asp
XM_017005639.1:c.2070G>C	XP_016861128.1:p.Glu690Asp
NM_001378259.1:c.3168G>C	NP_001365188.1:p.Glu1056Asp
NM_183357.3:c.3093G>C MANE Select	NP_899200.1:p.Glu1031Asp