Canonical Allele Identifier: CA354218335

Gene: ADCY5

Linked Data

• MyVariant Identifiers: chr3:g.123044191A>G (hg19) ; chr3:g.123325344A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.123325344A>G , CM000665.2:g.123325344A>G	GRCh38
NC_000003.11:g.123044191A>G , CM000665.1:g.123044191A>G	GRCh37
NC_000003.10:g.124526881A>G	NCBI36
NG_033882.1:g.128202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000466617.6:c.743T>C	ENSP00000420082.2:p.Val248Ala
ENST00000470367.2:c.1031T>C	ENSP00000514541.1:p.Val344Ala
ENST00000483566.2:c.743T>C	ENSP00000420252.2:p.Val248Ala
ENST00000699714.1:c.743T>C	ENSP00000514539.1:p.Val248Ala
ENST00000699715.1:c.743T>C	ENSP00000514540.1:p.Val248Ala
ENST00000699716.1:c.743T>C	ENSP00000514542.1:p.Val248Ala
ENST00000699718.1:c.2066T>C	ENSP00000514543.1:p.Val689Ala
ENST00000699719.1:n.325T>C
ENST00000462833.6:c.2066T>C MANE Select	ENSP00000419361.1:p.Val689Ala
ENST00000309879.9:c.1016T>C	ENSP00000308685.5:p.Val339Ala
ENST00000462833.5:c.2066T>C	ENSP00000419361.1:p.Val689Ala
ENST00000466617.5:c.743T>C	ENSP00000420082.1:p.Val248Ala
ENST00000491190.5:c.965T>C	ENSP00000418537.1:p.Val322Ala
NM_001199642.1:c.1016T>C	NP_001186571.1:p.Val339Ala
NM_183357.2:c.2066T>C	NP_899200.1:p.Val689Ala
XM_005247077.2:c.2066T>C	XP_005247134.1:p.Val689Ala
XM_005247078.1:c.1016T>C	XP_005247135.1:p.Val339Ala
XM_006713483.1:c.965T>C	XP_006713546.1:p.Val322Ala
XM_006713484.1:c.743T>C	XP_006713547.1:p.Val248Ala
XM_011512358.1:c.2066T>C	XP_011510660.1:p.Val689Ala
XM_011512359.1:c.1067T>C	XP_011510661.1:p.Val356Ala
XM_011512360.1:c.977T>C	XP_011510662.1:p.Val326Ala
XM_011512361.1:c.743T>C	XP_011510663.1:p.Val248Ala
XM_005247077.4:c.2066T>C	XP_005247134.1:p.Val689Ala
XM_011512359.2:c.1067T>C	XP_011510661.1:p.Val356Ala
XM_011512360.3:c.977T>C	XP_011510662.1:p.Val326Ala
XM_017005638.1:c.968T>C	XP_016861127.1:p.Val323Ala
XM_017005639.1:c.968T>C	XP_016861128.1:p.Val323Ala
NM_001378259.1:c.2066T>C	NP_001365188.1:p.Val689Ala
NM_183357.3:c.2066T>C MANE Select	NP_899200.1:p.Val689Ala