Canonical Allele Identifier: CA9871724

Gene: ADA

Linked Data

• dbSNP Id: rs751147673
• ExAC: 20:43255241 C / A
• gnomAD v2: 20-43255241-C-A
• MyVariant Identifiers: chr20:g.43255241C>A (hg19) ; chr20:g.44626600C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626600C>A , CM000682.2:g.44626600C>A	GRCh38
NC_000020.10:g.43255241C>A , CM000682.1:g.43255241C>A	GRCh37
NC_000020.9:g.42688655C>A	NCBI36
NG_007385.1:g.30136G>T , LRG_16:g.30136G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.310-1G>T
ENST00000536076.2:c.66-1G>T	ENSP00000512234.1:n.66-1G>T
ENST00000536532.6:c.219-1G>T	ENSP00000440946.1:n.219-1G>T
ENST00000537820.2:c.219-1G>T	ENSP00000441818.1:n.219-1G>T
ENST00000539235.6:c.218+2447G>T	ENSP00000446464.1:n.218+2447G>T
ENST00000695889.1:c.218+2447G>T	ENSP00000512240.1:n.218+2447G>T
ENST00000695890.1:n.2021G>T
ENST00000695891.1:c.218+2447G>T	ENSP00000512241.1:n.218+2447G>T
ENST00000695927.1:c.297-1G>T	ENSP00000512270.1:n.297-1G>T
ENST00000695949.1:c.216-1G>T	ENSP00000512281.1:n.216-1G>T
ENST00000695957.1:c.219-1G>T	ENSP00000512286.1:n.219-1G>T
ENST00000695991.1:c.216+2449G>T	ENSP00000512314.1:n.216+2449G>T
ENST00000695992.1:c.219-1G>T	ENSP00000512315.1:n.219-1G>T
ENST00000695993.1:c.219-1G>T	ENSP00000512316.1:n.219-1G>T
ENST00000695994.1:c.219-1G>T	ENSP00000512317.1:n.219-1G>T
ENST00000695995.1:c.216+2449G>T	ENSP00000512318.1:n.216+2449G>T
ENST00000695996.1:n.290-1G>T
ENST00000695997.1:n.290-1G>T
ENST00000696003.1:n.311-1G>T
ENST00000696004.1:n.311-1G>T
ENST00000696006.1:c.219-1G>T	ENSP00000512325.1:n.219-1G>T
ENST00000696007.1:c.186-1G>T	ENSP00000512326.1:n.186-1G>T
ENST00000696009.1:n.330-1G>T
ENST00000696017.1:c.216-1G>T	ENSP00000512333.1:n.216-1G>T
ENST00000696034.1:c.219-1G>T	ENSP00000512343.1:n.219-1G>T
ENST00000696035.1:n.328G>T
ENST00000696036.1:n.908G>T
ENST00000696037.1:n.1895G>T
ENST00000696038.1:c.217-1G>T	ENSP00000512344.1:n.217-1G>T
ENST00000696039.1:n.507-1G>T
ENST00000696058.1:c.219-1G>T	ENSP00000512361.1:n.219-1G>T
ENST00000696059.1:c.*164-1G>T	ENSP00000512362.1:n.*164-1G>T
ENST00000696060.1:c.219-1G>T	ENSP00000512363.1:n.219-1G>T
ENST00000696061.1:c.216-1G>T	ENSP00000512364.1:n.216-1G>T
ENST00000696062.1:c.282-1G>T	ENSP00000512365.1:n.282-1G>T
ENST00000696063.1:c.294-1G>T	ENSP00000512366.1:n.294-1G>T
ENST00000696064.1:c.66-1G>T	ENSP00000512367.1:n.66-1G>T
ENST00000696065.1:c.65+2447G>T	ENSP00000512368.1:n.65+2447G>T
ENST00000696075.1:c.*189-1G>T	ENSP00000512374.1:n.*189-1G>T
ENST00000696076.1:c.219-1G>T	ENSP00000512375.1:n.219-1G>T
ENST00000696077.1:c.216-1G>T	ENSP00000512376.1:n.216-1G>T
ENST00000696078.1:c.219-1G>T	ENSP00000512377.1:n.219-1G>T
ENST00000696079.1:c.219-1G>T	ENSP00000512378.1:n.219-1G>T
ENST00000696080.1:c.219-1G>T	ENSP00000512379.1:n.219-1G>T
ENST00000696082.1:c.297-1G>T	ENSP00000512380.1:n.297-1G>T
ENST00000696084.1:n.320-1G>T
ENST00000696104.1:c.219-1G>T	ENSP00000512399.1:n.219-1G>T
ENST00000696105.1:c.219-1G>T	ENSP00000512400.1:n.219-1G>T
ENST00000372874.9:c.219-1G>T MANE Select	ENSP00000361965.4:n.219-1G>T
ENST00000372874.8:c.219-1G>T	ENSP00000361965.4:n.219-1G>T
ENST00000492931.5:n.303-1G>T
ENST00000536076.1:n.399-1G>T
ENST00000536532.5:c.219-1G>T	ENSP00000440946.1:n.219-1G>T
ENST00000537820.1:c.219-1G>T	ENSP00000441818.1:n.219-1G>T
ENST00000539235.5:c.218+2447G>T	ENSP00000446464.1:n.218+2447G>T
ENST00000545776.5:n.273-1G>T
NM_000022.2:c.219-1G>T , LRG_16t1:c.219-1G>T	NP_000013.2:n.219-1G>T
XM_005260236.2:c.219-1G>T	XP_005260293.1:n.219-1G>T
XM_011528478.1:c.-71-1G>T	XP_011526780.1:n.-71-1G>T
XM_011528479.1:c.-71-1G>T	XP_011526781.1:n.-71-1G>T
XR_244129.1:n.273-1G>T
NM_000022.3:c.219-1G>T	NP_000013.2:n.219-1G>T
NM_001322050.1:c.-71-1G>T	NP_001308979.1:n.-71-1G>T
NM_001322051.1:c.219-1G>T	NP_001308980.1:n.219-1G>T
NR_136160.1:n.370-1G>T
NM_000022.4:c.219-1G>T MANE Select	NP_000013.2:n.219-1G>T
NM_001322050.2:c.-71-1G>T	NP_001308979.1:n.-71-1G>T
NM_001322051.2:c.219-1G>T	NP_001308980.1:n.219-1G>T
NR_136160.2:n.311-1G>T