Canonical Allele Identifier: CA1017792083

Gene: ADA

Linked Data

• dbSNP Id: rs2065385442
• gnomAD v3: 20-44626634-C-T
• gnomAD v4: 20-44626634-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626634C>T , CM000682.2:g.44626634C>T	GRCh38
NC_000020.10:g.43255275C>T , CM000682.1:g.43255275C>T	GRCh37
NC_000020.9:g.42688689C>T	NCBI36
NG_007385.1:g.30102G>A , LRG_16:g.30102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.310-35G>A
ENST00000536076.2:c.66-35G>A	ENSP00000512234.1:n.66-35G>A
ENST00000536532.6:c.219-35G>A	ENSP00000440946.1:n.219-35G>A
ENST00000537820.2:c.219-35G>A	ENSP00000441818.1:n.219-35G>A
ENST00000539235.6:c.218+2413G>A	ENSP00000446464.1:n.218+2413G>A
ENST00000695889.1:c.218+2413G>A	ENSP00000512240.1:n.218+2413G>A
ENST00000695890.1:n.1987G>A
ENST00000695891.1:c.218+2413G>A	ENSP00000512241.1:n.218+2413G>A
ENST00000695927.1:c.297-35G>A	ENSP00000512270.1:n.297-35G>A
ENST00000695949.1:c.216-35G>A	ENSP00000512281.1:n.216-35G>A
ENST00000695957.1:c.219-35G>A	ENSP00000512286.1:n.219-35G>A
ENST00000695991.1:c.216+2415G>A	ENSP00000512314.1:n.216+2415G>A
ENST00000695992.1:c.219-35G>A	ENSP00000512315.1:n.219-35G>A
ENST00000695993.1:c.219-35G>A	ENSP00000512316.1:n.219-35G>A
ENST00000695994.1:c.219-35G>A	ENSP00000512317.1:n.219-35G>A
ENST00000695995.1:c.216+2415G>A	ENSP00000512318.1:n.216+2415G>A
ENST00000695996.1:n.290-35G>A
ENST00000695997.1:n.290-35G>A
ENST00000696003.1:n.311-35G>A
ENST00000696004.1:n.311-35G>A
ENST00000696006.1:c.219-35G>A	ENSP00000512325.1:n.219-35G>A
ENST00000696007.1:c.186-35G>A	ENSP00000512326.1:n.186-35G>A
ENST00000696009.1:n.330-35G>A
ENST00000696017.1:c.216-35G>A	ENSP00000512333.1:n.216-35G>A
ENST00000696034.1:c.219-35G>A	ENSP00000512343.1:n.219-35G>A
ENST00000696035.1:n.294G>A
ENST00000696036.1:n.874G>A
ENST00000696037.1:n.1861G>A
ENST00000696038.1:c.217-35G>A	ENSP00000512344.1:n.217-35G>A
ENST00000696039.1:n.507-35G>A
ENST00000696058.1:c.219-35G>A	ENSP00000512361.1:n.219-35G>A
ENST00000696059.1:c.*164-35G>A	ENSP00000512362.1:n.*164-35G>A
ENST00000696060.1:c.219-35G>A	ENSP00000512363.1:n.219-35G>A
ENST00000696061.1:c.216-35G>A	ENSP00000512364.1:n.216-35G>A
ENST00000696062.1:c.282-35G>A	ENSP00000512365.1:n.282-35G>A
ENST00000696063.1:c.294-35G>A	ENSP00000512366.1:n.294-35G>A
ENST00000696064.1:c.66-35G>A	ENSP00000512367.1:n.66-35G>A
ENST00000696065.1:c.65+2413G>A	ENSP00000512368.1:n.65+2413G>A
ENST00000696075.1:c.*189-35G>A	ENSP00000512374.1:n.*189-35G>A
ENST00000696076.1:c.219-35G>A	ENSP00000512375.1:n.219-35G>A
ENST00000696077.1:c.216-35G>A	ENSP00000512376.1:n.216-35G>A
ENST00000696078.1:c.219-35G>A	ENSP00000512377.1:n.219-35G>A
ENST00000696079.1:c.219-35G>A	ENSP00000512378.1:n.219-35G>A
ENST00000696080.1:c.219-35G>A	ENSP00000512379.1:n.219-35G>A
ENST00000696082.1:c.297-35G>A	ENSP00000512380.1:n.297-35G>A
ENST00000696084.1:n.320-35G>A
ENST00000696104.1:c.219-35G>A	ENSP00000512399.1:n.219-35G>A
ENST00000696105.1:c.219-35G>A	ENSP00000512400.1:n.219-35G>A
ENST00000372874.9:c.219-35G>A MANE Select	ENSP00000361965.4:n.219-35G>A
ENST00000372874.8:c.219-35G>A	ENSP00000361965.4:n.219-35G>A
ENST00000492931.5:n.303-35G>A
ENST00000536076.1:n.399-35G>A
ENST00000536532.5:c.219-35G>A	ENSP00000440946.1:n.219-35G>A
ENST00000537820.1:c.219-35G>A	ENSP00000441818.1:n.219-35G>A
ENST00000539235.5:c.218+2413G>A	ENSP00000446464.1:n.218+2413G>A
ENST00000545776.5:n.273-35G>A
NM_000022.2:c.219-35G>A , LRG_16t1:c.219-35G>A	NP_000013.2:n.219-35G>A
XM_005260236.2:c.219-35G>A	XP_005260293.1:n.219-35G>A
XM_011528478.1:c.-71-35G>A	XP_011526780.1:n.-71-35G>A
XM_011528479.1:c.-71-35G>A	XP_011526781.1:n.-71-35G>A
XR_244129.1:n.273-35G>A
NM_000022.3:c.219-35G>A	NP_000013.2:n.219-35G>A
NM_001322050.1:c.-71-35G>A	NP_001308979.1:n.-71-35G>A
NM_001322051.1:c.219-35G>A	NP_001308980.1:n.219-35G>A
NR_136160.1:n.370-35G>A
NM_000022.4:c.219-35G>A MANE Select	NP_000013.2:n.219-35G>A
NM_001322050.2:c.-71-35G>A	NP_001308979.1:n.-71-35G>A
NM_001322051.2:c.219-35G>A	NP_001308980.1:n.219-35G>A
NR_136160.2:n.311-35G>A