Canonical Allele Identifier: CA2576686

Gene: ADCY5

Linked Data

• dbSNP Id: rs760452225
• ExAC: 3:123003474 C / G
• gnomAD v2: 3-123003474-C-G
• gnomAD v4: 3-123284627-C-G
• MyVariant Identifiers: chr3:g.123003474C>G (hg19) ; chr3:g.123284627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123284627C>G , CM000665.2:g.123284627C>G	GRCh38
NC_000003.11:g.123003474C>G , CM000665.1:g.123003474C>G	GRCh37
NC_000003.10:g.124486164C>G	NCBI36
NG_033882.1:g.168919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.2444G>C	ENSP00000420082.2:p.Gly815Ala
ENST00000470367.2:c.2732G>C	ENSP00000514541.1:p.Gly911Ala
ENST00000483566.2:c.2444G>C	ENSP00000420252.2:p.Gly815Ala
ENST00000699714.1:c.2444G>C	ENSP00000514539.1:p.Gly815Ala
ENST00000699715.1:c.2444G>C	ENSP00000514540.1:p.Gly815Ala
ENST00000699716.1:c.2444G>C	ENSP00000514542.1:p.Gly815Ala
ENST00000699717.1:n.2170G>C
ENST00000699718.1:c.3842G>C	ENSP00000514543.1:p.Gly1281Ala
ENST00000462833.6:c.3767G>C MANE Select	ENSP00000419361.1:p.Gly1256Ala
ENST00000309879.9:c.2717G>C	ENSP00000308685.5:p.Gly906Ala
ENST00000462833.5:c.3767G>C	ENSP00000419361.1:p.Gly1256Ala
ENST00000478092.1:n.537G>C
ENST00000491190.5:c.2741G>C	ENSP00000418537.1:p.Gly914Ala
NM_001199642.1:c.2717G>C	NP_001186571.1:p.Gly906Ala
NM_183357.2:c.3767G>C	NP_899200.1:p.Gly1256Ala
XM_005247077.2:c.3842G>C	XP_005247134.1:p.Gly1281Ala
XM_005247078.1:c.2792G>C	XP_005247135.1:p.Gly931Ala
XM_006713483.1:c.2741G>C	XP_006713546.1:p.Gly914Ala
XM_006713484.1:c.2519G>C	XP_006713547.1:p.Gly840Ala
XM_011512359.1:c.2843G>C	XP_011510661.1:p.Gly948Ala
XM_011512360.1:c.2753G>C	XP_011510662.1:p.Gly918Ala
XM_011512361.1:c.2519G>C	XP_011510663.1:p.Gly840Ala
XM_005247077.4:c.3842G>C	XP_005247134.1:p.Gly1281Ala
XM_011512359.2:c.2843G>C	XP_011510661.1:p.Gly948Ala
XM_011512360.3:c.2753G>C	XP_011510662.1:p.Gly918Ala
XM_017005638.1:c.2744G>C	XP_016861127.1:p.Gly915Ala
XM_017005639.1:c.2744G>C	XP_016861128.1:p.Gly915Ala
NM_001378259.1:c.3842G>C	NP_001365188.1:p.Gly1281Ala
NM_183357.3:c.3767G>C MANE Select	NP_899200.1:p.Gly1256Ala