Canonical Allele Identifier: CA409120961

Gene: ADA

Linked Data

• gnomAD v4: 20-44624309-C-G
• MyVariant Identifiers: chr20:g.43252950C>G (hg19) ; chr20:g.44624309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624309C>G , CM000682.2:g.44624309C>G	GRCh38
NC_000020.10:g.43252950C>G , CM000682.1:g.43252950C>G	GRCh37
NC_000020.9:g.42686364C>G	NCBI36
NG_007385.1:g.32427G>C , LRG_16:g.32427G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.590G>C
ENST00000536076.2:c.346G>C	ENSP00000512234.1:p.Glu116Gln
ENST00000536532.6:c.499G>C	ENSP00000440946.1:p.Glu167Gln
ENST00000537820.2:c.499G>C	ENSP00000441818.1:p.Glu167Gln
ENST00000539235.6:c.219-1231G>C	ENSP00000446464.1:n.219-1231G>C
ENST00000695889.1:c.219-1379G>C	ENSP00000512240.1:n.219-1379G>C
ENST00000695890.1:n.2302G>C
ENST00000695891.1:c.219-1379G>C	ENSP00000512241.1:n.219-1379G>C
ENST00000695927.1:c.577G>C	ENSP00000512270.1:p.Glu193Gln
ENST00000695949.1:c.496G>C	ENSP00000512281.1:p.Glu166Gln
ENST00000695957.1:c.383G>C	ENSP00000512286.1:p.Gly128Ala
ENST00000695991.1:c.217-1379G>C	ENSP00000512314.1:n.217-1379G>C
ENST00000695992.1:c.499G>C	ENSP00000512315.1:p.Glu167Gln
ENST00000695993.1:c.499G>C	ENSP00000512316.1:p.Glu167Gln
ENST00000695994.1:c.499G>C	ENSP00000512317.1:p.Glu167Gln
ENST00000695995.1:c.217-1231G>C	ENSP00000512318.1:n.217-1231G>C
ENST00000695996.1:n.570G>C
ENST00000695997.1:n.454G>C
ENST00000696003.1:n.591G>C
ENST00000696004.1:n.591G>C
ENST00000696005.1:c.21G>C
ENST00000696006.1:c.499G>C	ENSP00000512325.1:p.Glu167Gln
ENST00000696007.1:c.350G>C	ENSP00000512326.1:p.Gly117Ala
ENST00000696008.1:n.1654G>C
ENST00000696009.1:n.1849G>C
ENST00000696017.1:c.496G>C	ENSP00000512333.1:p.Glu166Gln
ENST00000696034.1:c.499G>C	ENSP00000512343.1:p.Glu167Gln
ENST00000696035.1:n.609G>C
ENST00000696036.1:n.1189G>C
ENST00000696037.1:n.2176G>C
ENST00000696038.1:c.*245G>C	ENSP00000512344.1:n.*245G>C
ENST00000696039.1:n.787G>C
ENST00000696058.1:c.499G>C	ENSP00000512361.1:p.Glu167Gln
ENST00000696059.1:c.*444G>C	ENSP00000512362.1:n.*444G>C
ENST00000696060.1:c.499G>C	ENSP00000512363.1:p.Glu167Gln
ENST00000696061.1:c.496G>C	ENSP00000512364.1:p.Glu166Gln
ENST00000696062.1:c.562G>C	ENSP00000512365.1:p.Glu188Gln
ENST00000696063.1:c.574G>C	ENSP00000512366.1:p.Glu192Gln
ENST00000696064.1:c.346G>C	ENSP00000512367.1:p.Glu116Gln
ENST00000696065.1:c.66-1379G>C	ENSP00000512368.1:n.66-1379G>C
ENST00000696074.1:n.115G>C
ENST00000696075.1:c.*469G>C	ENSP00000512374.1:n.*469G>C
ENST00000696076.1:c.499G>C	ENSP00000512375.1:p.Glu167Gln
ENST00000696077.1:c.496G>C	ENSP00000512376.1:p.Glu166Gln
ENST00000696078.1:c.499G>C	ENSP00000512377.1:p.Glu167Gln
ENST00000696079.1:c.499G>C	ENSP00000512378.1:p.Glu167Gln
ENST00000696080.1:c.499G>C	ENSP00000512379.1:p.Glu167Gln
ENST00000696081.1:n.618G>C
ENST00000696082.1:c.577G>C	ENSP00000512380.1:p.Glu193Gln
ENST00000696083.1:n.1380G>C
ENST00000696084.1:n.600G>C
ENST00000696104.1:c.363-1379G>C	ENSP00000512399.1:n.363-1379G>C
ENST00000696105.1:c.*40G>C	ENSP00000512400.1:n.*40G>C
ENST00000372874.9:c.499G>C MANE Select	ENSP00000361965.4:p.Glu167Gln
ENST00000372874.8:c.499G>C	ENSP00000361965.4:p.Glu167Gln
ENST00000464097.5:n.173G>C
ENST00000492931.5:n.583G>C
ENST00000536532.5:c.499G>C	ENSP00000440946.1:p.Glu167Gln
ENST00000537820.1:c.499G>C	ENSP00000441818.1:p.Glu167Gln
ENST00000539235.5:c.219-1231G>C	ENSP00000446464.1:n.219-1231G>C
NM_000022.2:c.499G>C , LRG_16t1:c.499G>C	NP_000013.2:p.Glu167Gln
XM_005260236.2:c.499G>C	XP_005260293.1:p.Glu167Gln
XM_011528478.1:c.94G>C	XP_011526780.1:p.Glu32Gln
XM_011528479.1:c.94G>C	XP_011526781.1:p.Glu32Gln
XR_244129.1:n.553G>C
NM_000022.3:c.499G>C	NP_000013.2:p.Glu167Gln
NM_001322050.1:c.94G>C	NP_001308979.1:p.Glu32Gln
NM_001322051.1:c.499G>C	NP_001308980.1:p.Glu167Gln
NR_136160.1:n.650G>C
NM_000022.4:c.499G>C MANE Select	NP_000013.2:p.Glu167Gln
NM_001322050.2:c.94G>C	NP_001308979.1:p.Glu32Gln
NM_001322051.2:c.499G>C	NP_001308980.1:p.Glu167Gln
NR_136160.2:n.591G>C