Canonical Allele Identifier: CA354221871

Gene: ADCY5

Linked Data

• ClinVar Variation Id: 2117500
• ClinVar RCV Id: RCV003039230
• gnomAD v4: 3-123284646-T-G
• MyVariant Identifiers: chr3:g.123003493T>G (hg19) ; chr3:g.123284646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284646T>G , CM000665.2:g.123284646T>G	GRCh38
NC_000003.11:g.123003493T>G , CM000665.1:g.123003493T>G	GRCh37
NC_000003.10:g.124486183T>G	NCBI36
NG_033882.1:g.168900A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2425A>C	ENSP00000420082.2:p.Met809Leu
ENST00000470367.2:c.2713A>C	ENSP00000514541.1:p.Met905Leu
ENST00000483566.2:c.2425A>C	ENSP00000420252.2:p.Met809Leu
ENST00000699714.1:c.2425A>C	ENSP00000514539.1:p.Met809Leu
ENST00000699715.1:c.2425A>C	ENSP00000514540.1:p.Met809Leu
ENST00000699716.1:c.2425A>C	ENSP00000514542.1:p.Met809Leu
ENST00000699717.1:n.2151A>C
ENST00000699718.1:c.3823A>C	ENSP00000514543.1:p.Met1275Leu
ENST00000462833.6:c.3748A>C MANE Select	ENSP00000419361.1:p.Met1250Leu
ENST00000309879.9:c.2698A>C	ENSP00000308685.5:p.Met900Leu
ENST00000462833.5:c.3748A>C	ENSP00000419361.1:p.Met1250Leu
ENST00000478092.1:n.518A>C
ENST00000491190.5:c.2722A>C	ENSP00000418537.1:p.Met908Leu
NM_001199642.1:c.2698A>C	NP_001186571.1:p.Met900Leu
NM_183357.2:c.3748A>C	NP_899200.1:p.Met1250Leu
XM_005247077.2:c.3823A>C	XP_005247134.1:p.Met1275Leu
XM_005247078.1:c.2773A>C	XP_005247135.1:p.Met925Leu
XM_006713483.1:c.2722A>C	XP_006713546.1:p.Met908Leu
XM_006713484.1:c.2500A>C	XP_006713547.1:p.Met834Leu
XM_011512359.1:c.2824A>C	XP_011510661.1:p.Met942Leu
XM_011512360.1:c.2734A>C	XP_011510662.1:p.Met912Leu
XM_011512361.1:c.2500A>C	XP_011510663.1:p.Met834Leu
XM_005247077.4:c.3823A>C	XP_005247134.1:p.Met1275Leu
XM_011512359.2:c.2824A>C	XP_011510661.1:p.Met942Leu
XM_011512360.3:c.2734A>C	XP_011510662.1:p.Met912Leu
XM_017005638.1:c.2725A>C	XP_016861127.1:p.Met909Leu
XM_017005639.1:c.2725A>C	XP_016861128.1:p.Met909Leu
NM_001378259.1:c.3823A>C	NP_001365188.1:p.Met1275Leu
NM_183357.3:c.3748A>C MANE Select	NP_899200.1:p.Met1250Leu