Canonical Allele Identifier: CA354221861

Gene: ADCY5

Linked Data

• dbSNP Id: rs1938609752
• gnomAD v3: 3-123284644-C-T
• gnomAD v4: 3-123284644-C-T
• MyVariant Identifiers: chr3:g.123003491C>T (hg19) ; chr3:g.123284644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284644C>T , CM000665.2:g.123284644C>T	GRCh38
NC_000003.11:g.123003491C>T , CM000665.1:g.123003491C>T	GRCh37
NC_000003.10:g.124486181C>T	NCBI36
NG_033882.1:g.168902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2427G>A	ENSP00000420082.2:p.Met809Ile
ENST00000470367.2:c.2715G>A	ENSP00000514541.1:p.Met905Ile
ENST00000483566.2:c.2427G>A	ENSP00000420252.2:p.Met809Ile
ENST00000699714.1:c.2427G>A	ENSP00000514539.1:p.Met809Ile
ENST00000699715.1:c.2427G>A	ENSP00000514540.1:p.Met809Ile
ENST00000699716.1:c.2427G>A	ENSP00000514542.1:p.Met809Ile
ENST00000699717.1:n.2153G>A
ENST00000699718.1:c.3825G>A	ENSP00000514543.1:p.Met1275Ile
ENST00000462833.6:c.3750G>A MANE Select	ENSP00000419361.1:p.Met1250Ile
ENST00000309879.9:c.2700G>A	ENSP00000308685.5:p.Met900Ile
ENST00000462833.5:c.3750G>A	ENSP00000419361.1:p.Met1250Ile
ENST00000478092.1:n.520G>A
ENST00000491190.5:c.2724G>A	ENSP00000418537.1:p.Met908Ile
NM_001199642.1:c.2700G>A	NP_001186571.1:p.Met900Ile
NM_183357.2:c.3750G>A	NP_899200.1:p.Met1250Ile
XM_005247077.2:c.3825G>A	XP_005247134.1:p.Met1275Ile
XM_005247078.1:c.2775G>A	XP_005247135.1:p.Met925Ile
XM_006713483.1:c.2724G>A	XP_006713546.1:p.Met908Ile
XM_006713484.1:c.2502G>A	XP_006713547.1:p.Met834Ile
XM_011512359.1:c.2826G>A	XP_011510661.1:p.Met942Ile
XM_011512360.1:c.2736G>A	XP_011510662.1:p.Met912Ile
XM_011512361.1:c.2502G>A	XP_011510663.1:p.Met834Ile
XM_005247077.4:c.3825G>A	XP_005247134.1:p.Met1275Ile
XM_011512359.2:c.2826G>A	XP_011510661.1:p.Met942Ile
XM_011512360.3:c.2736G>A	XP_011510662.1:p.Met912Ile
XM_017005638.1:c.2727G>A	XP_016861127.1:p.Met909Ile
XM_017005639.1:c.2727G>A	XP_016861128.1:p.Met909Ile
NM_001378259.1:c.3825G>A	NP_001365188.1:p.Met1275Ile
NM_183357.3:c.3750G>A MANE Select	NP_899200.1:p.Met1250Ile