Canonical Allele Identifier: CA409122476

Gene: ADA

Linked Data

• gnomAD v4: 20-44636253-C-A
• MyVariant Identifiers: chr20:g.43264894C>A (hg19) ; chr20:g.44636253C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636253C>A , CM000682.2:g.44636253C>A	GRCh38
NC_000020.10:g.43264894C>A , CM000682.1:g.43264894C>A	GRCh37
NC_000020.9:g.42698308C>A	NCBI36
NG_007385.1:g.20483G>T , LRG_16:g.20483G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.160G>T
ENST00000536076.2:c.-85G>T	ENSP00000512234.1:n.-85G>T
ENST00000536532.6:c.69G>T	ENSP00000440946.1:p.Lys23Asn
ENST00000537820.2:c.69G>T	ENSP00000441818.1:p.Lys23Asn
ENST00000539235.6:c.69G>T	ENSP00000446464.1:p.Lys23Asn
ENST00000695889.1:c.69G>T	ENSP00000512240.1:p.Lys23Asn
ENST00000695891.1:c.69G>T	ENSP00000512241.1:p.Lys23Asn
ENST00000695927.1:c.147G>T	ENSP00000512270.1:p.Lys49Asn
ENST00000695949.1:c.69G>T	ENSP00000512281.1:p.Lys23Asn
ENST00000695957.1:c.69G>T	ENSP00000512286.1:p.Lys23Asn
ENST00000695991.1:c.69G>T	ENSP00000512314.1:p.Lys23Asn
ENST00000695992.1:c.69G>T	ENSP00000512315.1:p.Lys23Asn
ENST00000695993.1:c.69G>T	ENSP00000512316.1:p.Lys23Asn
ENST00000695994.1:c.69G>T	ENSP00000512317.1:p.Lys23Asn
ENST00000695995.1:c.69G>T	ENSP00000512318.1:p.Lys23Asn
ENST00000695996.1:n.140G>T
ENST00000695997.1:n.140G>T
ENST00000696003.1:n.161G>T
ENST00000696004.1:n.161G>T
ENST00000696006.1:c.69G>T	ENSP00000512325.1:p.Lys23Asn
ENST00000696007.1:c.36G>T	ENSP00000512326.1:p.Lys12Asn
ENST00000696009.1:n.180G>T
ENST00000696010.1:n.182G>T
ENST00000696017.1:c.69G>T	ENSP00000512333.1:p.Lys23Asn
ENST00000696034.1:c.69G>T	ENSP00000512343.1:p.Lys23Asn
ENST00000696038.1:c.69G>T	ENSP00000512344.1:p.Lys23Asn
ENST00000696039.1:n.357G>T
ENST00000696058.1:c.69G>T	ENSP00000512361.1:p.Lys23Asn
ENST00000696059.1:c.*14G>T	ENSP00000512362.1:n.*14G>T
ENST00000696060.1:c.69G>T	ENSP00000512363.1:p.Lys23Asn
ENST00000696061.1:c.69G>T	ENSP00000512364.1:p.Lys23Asn
ENST00000696062.1:c.132G>T	ENSP00000512365.1:p.Lys44Asn
ENST00000696063.1:c.144G>T	ENSP00000512366.1:p.Lys48Asn
ENST00000696064.1:c.-82G>T	ENSP00000512367.1:n.-82G>T
ENST00000696065.1:c.-85G>T	ENSP00000512368.1:n.-85G>T
ENST00000696075.1:c.69G>T	ENSP00000512374.1:p.Lys23Asn
ENST00000696076.1:c.69G>T	ENSP00000512375.1:p.Lys23Asn
ENST00000696077.1:c.69G>T	ENSP00000512376.1:p.Lys23Asn
ENST00000696078.1:c.69G>T	ENSP00000512377.1:p.Lys23Asn
ENST00000696079.1:c.69G>T	ENSP00000512378.1:p.Lys23Asn
ENST00000696080.1:c.69G>T	ENSP00000512379.1:p.Lys23Asn
ENST00000696082.1:c.147G>T	ENSP00000512380.1:p.Lys49Asn
ENST00000696084.1:n.170G>T
ENST00000696104.1:c.69G>T	ENSP00000512399.1:p.Lys23Asn
ENST00000696105.1:c.69G>T	ENSP00000512400.1:p.Lys23Asn
ENST00000372874.9:c.69G>T MANE Select	ENSP00000361965.4:p.Lys23Asn
ENST00000372874.8:c.69G>T	ENSP00000361965.4:p.Lys23Asn
ENST00000492931.5:n.153G>T
ENST00000535573.1:n.368G>T
ENST00000536076.1:n.249G>T
ENST00000536532.5:c.69G>T	ENSP00000440946.1:p.Lys23Asn
ENST00000537820.1:c.69G>T	ENSP00000441818.1:p.Lys23Asn
ENST00000539235.5:c.69G>T	ENSP00000446464.1:p.Lys23Asn
ENST00000545776.5:n.123G>T
NM_000022.2:c.69G>T , LRG_16t1:c.69G>T	NP_000013.2:p.Lys23Asn
XM_005260236.2:c.69G>T	XP_005260293.1:p.Lys23Asn
XM_011528478.1:c.-221G>T	XP_011526780.1:n.-221G>T
XM_011528479.1:c.-221G>T	XP_011526781.1:n.-221G>T
XR_244129.1:n.123G>T
NM_000022.3:c.69G>T	NP_000013.2:p.Lys23Asn
NM_001322050.1:c.-221G>T	NP_001308979.1:n.-221G>T
NM_001322051.1:c.69G>T	NP_001308980.1:p.Lys23Asn
NR_136160.1:n.220G>T
NM_000022.4:c.69G>T MANE Select	NP_000013.2:p.Lys23Asn
NM_001322050.2:c.-221G>T	NP_001308979.1:n.-221G>T
NM_001322051.2:c.69G>T	NP_001308980.1:p.Lys23Asn
NR_136160.2:n.161G>T