Canonical Allele Identifier: CA409120442

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251682G>T (hg19) ; chr20:g.44623041G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623041G>T , CM000682.2:g.44623041G>T	GRCh38
NC_000020.10:g.43251682G>T , CM000682.1:g.43251682G>T	GRCh37
NC_000020.9:g.42685096G>T	NCBI36
NG_007385.1:g.33695C>A , LRG_16:g.33695C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.735C>A (ADA)
ENST00000536076.2:c.491C>A (ADA)	ENSP00000512234.1:p.Ala164Asp
ENST00000536532.6:c.644C>A (ADA)	ENSP00000440946.1:p.Ala215Asp
ENST00000537820.2:c.607-111C>A (ADA)	ENSP00000441818.1:n.607-111C>A
ENST00000539235.6:c.*28C>A (ADA)	ENSP00000446464.1:n.*28C>A
ENST00000695889.1:c.219-111C>A (ADA)	ENSP00000512240.1:n.219-111C>A
ENST00000695890.1:n.2447C>A (ADA)
ENST00000695891.1:c.219-111C>A (ADA)	ENSP00000512241.1:n.219-111C>A
ENST00000695927.1:c.722C>A (ADA)	ENSP00000512270.1:p.Ala241Asp
ENST00000695949.1:c.604-111C>A (ADA)	ENSP00000512281.1:n.604-111C>A
ENST00000695957.1:c.*135C>A (ADA)	ENSP00000512286.1:n.*135C>A
ENST00000695991.1:c.217-111C>A (ADA)	ENSP00000512314.1:n.217-111C>A
ENST00000695992.1:c.644C>A (ADA)	ENSP00000512315.1:p.Ala215Asp
ENST00000695993.1:c.644C>A (ADA)	ENSP00000512316.1:p.Ala215Asp
ENST00000695994.1:c.644C>A (ADA)	ENSP00000512317.1:p.Ala215Asp
ENST00000695995.1:c.254C>A (ADA)	ENSP00000512318.1:p.Ala85Asp
ENST00000695996.1:n.715C>A (ADA)
ENST00000696003.1:n.736C>A (ADA)
ENST00000696004.1:n.736C>A (ADA)
ENST00000696005.1:c.129-111C>A (ADA)
ENST00000696006.1:c.607-111C>A (ADA)	ENSP00000512325.1:n.607-111C>A
ENST00000696007.1:c.495C>A (ADA)	ENSP00000512326.1:n.495C>A
ENST00000696008.1:n.2922C>A (ADA)
ENST00000696017.1:c.641C>A (ADA)	ENSP00000512333.1:p.Ala214Asp
ENST00000696034.1:c.644C>A (ADA)	ENSP00000512343.1:p.Ala215Asp
ENST00000696035.1:n.754C>A (ADA)
ENST00000696036.1:n.1334C>A (ADA)
ENST00000696037.1:n.2321C>A (ADA)
ENST00000696038.1:c.*390C>A (ADA)	ENSP00000512344.1:n.*390C>A
ENST00000696039.1:n.932C>A (ADA)
ENST00000696058.1:c.641C>A (ADA)	ENSP00000512361.1:p.Ala214Asp
ENST00000696059.1:c.*589C>A (ADA)	ENSP00000512362.1:n.*589C>A
ENST00000696060.1:c.713C>A (ADA)	ENSP00000512363.1:p.Ala238Asp
ENST00000696061.1:c.641C>A (ADA)	ENSP00000512364.1:p.Ala214Asp
ENST00000696062.1:c.707C>A (ADA)	ENSP00000512365.1:p.Ala236Asp
ENST00000696063.1:c.719C>A (ADA)	ENSP00000512366.1:p.Ala240Asp
ENST00000696064.1:c.491C>A (ADA)	ENSP00000512367.1:p.Ala164Asp
ENST00000696065.1:c.66-111C>A (ADA)	ENSP00000512368.1:n.66-111C>A
ENST00000696073.1:n.879C>A (ADA)
ENST00000696074.1:n.260C>A (ADA)
ENST00000696075.1:c.*614C>A (ADA)	ENSP00000512374.1:n.*614C>A
ENST00000696076.1:c.713C>A (ADA)	ENSP00000512375.1:p.Ala238Asp
ENST00000696077.1:c.638C>A (ADA)	ENSP00000512376.1:p.Ala213Asp
ENST00000696078.1:c.641C>A (ADA)	ENSP00000512377.1:p.Ala214Asp
ENST00000696079.1:c.641C>A (ADA)	ENSP00000512378.1:p.Ala214Asp
ENST00000696080.1:c.644C>A (ADA)	ENSP00000512379.1:p.Ala215Asp
ENST00000696081.1:n.763C>A (ADA)
ENST00000696082.1:c.719C>A (ADA)	ENSP00000512380.1:p.Ala240Asp
ENST00000696083.1:n.1525C>A (ADA)
ENST00000696084.1:n.745C>A (ADA)
ENST00000696104.1:c.363-111C>A (ADA)	ENSP00000512399.1:n.363-111C>A
ENST00000696105.1:c.*185C>A (ADA)	ENSP00000512400.1:n.*185C>A
ENST00000372874.9:c.644C>A (ADA) MANE Select	ENSP00000361965.4:p.Ala215Asp
ENST00000372874.8:c.644C>A (ADA)	ENSP00000361965.4:p.Ala215Asp
ENST00000372887.5:c.152-892G>T (PKIG)	ENSP00000361978.1:n.152-892G>T
ENST00000464097.5:n.318C>A (ADA)
ENST00000492931.5:n.728C>A (ADA)
ENST00000536532.5:c.644C>A (ADA)	ENSP00000440946.1:p.Ala215Asp
ENST00000537820.1:c.607-111C>A (ADA)	ENSP00000441818.1:n.607-111C>A
ENST00000539235.5:c.*28C>A (ADA)	ENSP00000446464.1:n.*28C>A
NM_000022.2:c.644C>A , LRG_16t1:c.644C>A (ADA)	NP_000013.2:p.Ala215Asp
XM_005260236.2:c.607-111C>A (ADA)	XP_005260293.1:n.607-111C>A
XM_011528478.1:c.239C>A (ADA)	XP_011526780.1:p.Ala80Asp
XM_011528479.1:c.239C>A (ADA)	XP_011526781.1:p.Ala80Asp
XR_244129.1:n.698C>A (ADA)
NM_000022.3:c.644C>A (ADA)	NP_000013.2:p.Ala215Asp
NM_001322050.1:c.239C>A (ADA)	NP_001308979.1:p.Ala80Asp
NM_001322051.1:c.607-111C>A (ADA)	NP_001308980.1:n.607-111C>A
NR_136160.1:n.795C>A (ADA)
NM_000022.4:c.644C>A (ADA) MANE Select	NP_000013.2:p.Ala215Asp
NM_001322050.2:c.239C>A (ADA)	NP_001308979.1:p.Ala80Asp
NM_001322051.2:c.607-111C>A (ADA)	NP_001308980.1:n.607-111C>A
NR_136160.2:n.736C>A (ADA)