Canonical Allele Identifier: CA409120408

Gene: ADA PKIG

Linked Data

• MyVariant Identifiers: chr20:g.43251665C>G (hg19) ; chr20:g.44623024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44623024C>G , CM000682.2:g.44623024C>G	GRCh38
NC_000020.10:g.43251665C>G , CM000682.1:g.43251665C>G	GRCh37
NC_000020.9:g.42685079C>G	NCBI36
NG_007385.1:g.33712G>C , LRG_16:g.33712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.752G>C (ADA)
ENST00000536076.2:c.508G>C (ADA)	ENSP00000512234.1:p.Ala170Pro
ENST00000536532.6:c.661G>C (ADA)	ENSP00000440946.1:p.Ala221Pro
ENST00000537820.2:c.607-94G>C (ADA)	ENSP00000441818.1:n.607-94G>C
ENST00000539235.6:c.*45G>C (ADA)	ENSP00000446464.1:n.*45G>C
ENST00000695889.1:c.219-94G>C (ADA)	ENSP00000512240.1:n.219-94G>C
ENST00000695890.1:n.2464G>C (ADA)
ENST00000695891.1:c.219-94G>C (ADA)	ENSP00000512241.1:n.219-94G>C
ENST00000695927.1:c.739G>C (ADA)	ENSP00000512270.1:p.Ala247Pro
ENST00000695949.1:c.604-94G>C (ADA)	ENSP00000512281.1:n.604-94G>C
ENST00000695957.1:c.*152G>C (ADA)	ENSP00000512286.1:n.*152G>C
ENST00000695991.1:c.217-94G>C (ADA)	ENSP00000512314.1:n.217-94G>C
ENST00000695992.1:c.661G>C (ADA)	ENSP00000512315.1:p.Ala221Pro
ENST00000695993.1:c.661G>C (ADA)	ENSP00000512316.1:p.Ala221Pro
ENST00000695994.1:c.651+10G>C (ADA)	ENSP00000512317.1:n.651+10G>C
ENST00000695995.1:c.271G>C (ADA)	ENSP00000512318.1:p.Ala91Pro
ENST00000695996.1:n.732G>C (ADA)
ENST00000696003.1:n.753G>C (ADA)
ENST00000696004.1:n.753G>C (ADA)
ENST00000696005.1:c.129-94G>C (ADA)
ENST00000696006.1:c.607-94G>C (ADA)	ENSP00000512325.1:n.607-94G>C
ENST00000696007.1:c.512G>C (ADA)	ENSP00000512326.1:n.512G>C
ENST00000696008.1:n.2939G>C (ADA)
ENST00000696017.1:c.658G>C (ADA)	ENSP00000512333.1:p.Ala220Pro
ENST00000696034.1:c.661G>C (ADA)	ENSP00000512343.1:p.Ala221Pro
ENST00000696035.1:n.771G>C (ADA)
ENST00000696036.1:n.1351G>C (ADA)
ENST00000696037.1:n.2338G>C (ADA)
ENST00000696038.1:c.*407G>C (ADA)	ENSP00000512344.1:n.*407G>C
ENST00000696039.1:n.949G>C (ADA)
ENST00000696058.1:c.658G>C (ADA)	ENSP00000512361.1:p.Ala220Pro
ENST00000696059.1:c.*606G>C (ADA)	ENSP00000512362.1:n.*606G>C
ENST00000696060.1:c.730G>C (ADA)	ENSP00000512363.1:p.Ala244Pro
ENST00000696061.1:c.658G>C (ADA)	ENSP00000512364.1:p.Ala220Pro
ENST00000696062.1:c.724G>C (ADA)	ENSP00000512365.1:p.Ala242Pro
ENST00000696063.1:c.736G>C (ADA)	ENSP00000512366.1:p.Ala246Pro
ENST00000696064.1:c.508G>C (ADA)	ENSP00000512367.1:p.Ala170Pro
ENST00000696065.1:c.66-94G>C (ADA)	ENSP00000512368.1:n.66-94G>C
ENST00000696073.1:n.896G>C (ADA)
ENST00000696074.1:n.277G>C (ADA)
ENST00000696075.1:c.*631G>C (ADA)	ENSP00000512374.1:n.*631G>C
ENST00000696076.1:c.730G>C (ADA)	ENSP00000512375.1:p.Ala244Pro
ENST00000696077.1:c.655G>C (ADA)	ENSP00000512376.1:p.Ala219Pro
ENST00000696078.1:c.658G>C (ADA)	ENSP00000512377.1:p.Ala220Pro
ENST00000696079.1:c.658G>C (ADA)	ENSP00000512378.1:p.Ala220Pro
ENST00000696080.1:c.661G>C (ADA)	ENSP00000512379.1:p.Ala221Pro
ENST00000696081.1:n.780G>C (ADA)
ENST00000696082.1:c.736G>C (ADA)	ENSP00000512380.1:p.Ala246Pro
ENST00000696083.1:n.1542G>C (ADA)
ENST00000696084.1:n.762G>C (ADA)
ENST00000696104.1:c.363-94G>C (ADA)	ENSP00000512399.1:n.363-94G>C
ENST00000696105.1:c.*202G>C (ADA)	ENSP00000512400.1:n.*202G>C
ENST00000372874.9:c.661G>C (ADA) MANE Select	ENSP00000361965.4:p.Ala221Pro
ENST00000372874.8:c.661G>C (ADA)	ENSP00000361965.4:p.Ala221Pro
ENST00000372887.5:c.152-909C>G (PKIG)	ENSP00000361978.1:n.152-909C>G
ENST00000464097.5:n.335G>C (ADA)
ENST00000492931.5:n.745G>C (ADA)
ENST00000536532.5:c.661G>C (ADA)	ENSP00000440946.1:p.Ala221Pro
ENST00000537820.1:c.607-94G>C (ADA)	ENSP00000441818.1:n.607-94G>C
ENST00000539235.5:c.*45G>C (ADA)	ENSP00000446464.1:n.*45G>C
NM_000022.2:c.661G>C , LRG_16t1:c.661G>C (ADA)	NP_000013.2:p.Ala221Pro
XM_005260236.2:c.607-94G>C (ADA)	XP_005260293.1:n.607-94G>C
XM_011528478.1:c.256G>C (ADA)	XP_011526780.1:p.Ala86Pro
XM_011528479.1:c.256G>C (ADA)	XP_011526781.1:p.Ala86Pro
XR_244129.1:n.715G>C (ADA)
NM_000022.3:c.661G>C (ADA)	NP_000013.2:p.Ala221Pro
NM_001322050.1:c.256G>C (ADA)	NP_001308979.1:p.Ala86Pro
NM_001322051.1:c.607-94G>C (ADA)	NP_001308980.1:n.607-94G>C
NR_136160.1:n.812G>C (ADA)
NM_000022.4:c.661G>C (ADA) MANE Select	NP_000013.2:p.Ala221Pro
NM_001322050.2:c.256G>C (ADA)	NP_001308979.1:p.Ala86Pro
NM_001322051.2:c.607-94G>C (ADA)	NP_001308980.1:n.607-94G>C
NR_136160.2:n.753G>C (ADA)