Canonical Allele Identifier: CA315440091

Gene: ADA

Linked Data

• dbSNP Id: rs1042360
• gnomAD v4: 20-44624295-C-G
• MyVariant Identifiers: chr20:g.43252936C>G (hg19) ; chr20:g.44624295C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624295C>G , CM000682.2:g.44624295C>G	GRCh38
NC_000020.10:g.43252936C>G , CM000682.1:g.43252936C>G	GRCh37
NC_000020.9:g.42686350C>G	NCBI36
NG_007385.1:g.32441G>C , LRG_16:g.32441G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.604G>C
ENST00000536076.2:c.360G>C	ENSP00000512234.1:p.Lys120Asn
ENST00000536532.6:c.513G>C	ENSP00000440946.1:p.Lys171Asn
ENST00000537820.2:c.513G>C	ENSP00000441818.1:p.Lys171Asn
ENST00000539235.6:c.219-1217G>C	ENSP00000446464.1:n.219-1217G>C
ENST00000695889.1:c.219-1365G>C	ENSP00000512240.1:n.219-1365G>C
ENST00000695890.1:n.2316G>C
ENST00000695891.1:c.219-1365G>C	ENSP00000512241.1:n.219-1365G>C
ENST00000695927.1:c.591G>C	ENSP00000512270.1:p.Lys197Asn
ENST00000695949.1:c.510G>C	ENSP00000512281.1:p.Lys170Asn
ENST00000695957.1:c.*4G>C	ENSP00000512286.1:n.*4G>C
ENST00000695991.1:c.217-1365G>C	ENSP00000512314.1:n.217-1365G>C
ENST00000695992.1:c.513G>C	ENSP00000512315.1:p.Lys171Asn
ENST00000695993.1:c.513G>C	ENSP00000512316.1:p.Lys171Asn
ENST00000695994.1:c.513G>C	ENSP00000512317.1:p.Lys171Asn
ENST00000695995.1:c.217-1217G>C	ENSP00000512318.1:n.217-1217G>C
ENST00000695996.1:n.584G>C
ENST00000695997.1:n.468G>C
ENST00000696003.1:n.605G>C
ENST00000696004.1:n.605G>C
ENST00000696005.1:c.35G>C
ENST00000696006.1:c.513G>C	ENSP00000512325.1:p.Lys171Asn
ENST00000696007.1:c.364G>C	ENSP00000512326.1:n.364G>C
ENST00000696008.1:n.1668G>C
ENST00000696009.1:n.1863G>C
ENST00000696017.1:c.510G>C	ENSP00000512333.1:p.Lys170Asn
ENST00000696034.1:c.513G>C	ENSP00000512343.1:p.Lys171Asn
ENST00000696035.1:n.623G>C
ENST00000696036.1:n.1203G>C
ENST00000696037.1:n.2190G>C
ENST00000696038.1:c.*259G>C	ENSP00000512344.1:n.*259G>C
ENST00000696039.1:n.801G>C
ENST00000696058.1:c.513G>C	ENSP00000512361.1:p.Lys171Asn
ENST00000696059.1:c.*458G>C	ENSP00000512362.1:n.*458G>C
ENST00000696060.1:c.513G>C	ENSP00000512363.1:p.Lys171Asn
ENST00000696061.1:c.510G>C	ENSP00000512364.1:p.Lys170Asn
ENST00000696062.1:c.576G>C	ENSP00000512365.1:p.Lys192Asn
ENST00000696063.1:c.588G>C	ENSP00000512366.1:p.Lys196Asn
ENST00000696064.1:c.360G>C	ENSP00000512367.1:p.Lys120Asn
ENST00000696065.1:c.66-1365G>C	ENSP00000512368.1:n.66-1365G>C
ENST00000696074.1:n.129G>C
ENST00000696075.1:c.*483G>C	ENSP00000512374.1:n.*483G>C
ENST00000696076.1:c.513G>C	ENSP00000512375.1:p.Lys171Asn
ENST00000696077.1:c.510G>C	ENSP00000512376.1:p.Lys170Asn
ENST00000696078.1:c.513G>C	ENSP00000512377.1:p.Lys171Asn
ENST00000696079.1:c.513G>C	ENSP00000512378.1:p.Lys171Asn
ENST00000696080.1:c.513G>C	ENSP00000512379.1:p.Lys171Asn
ENST00000696081.1:n.632G>C
ENST00000696082.1:c.591G>C	ENSP00000512380.1:p.Lys197Asn
ENST00000696083.1:n.1394G>C
ENST00000696084.1:n.614G>C
ENST00000696104.1:c.363-1365G>C	ENSP00000512399.1:n.363-1365G>C
ENST00000696105.1:c.*54G>C	ENSP00000512400.1:n.*54G>C
ENST00000372874.9:c.513G>C MANE Select	ENSP00000361965.4:p.Lys171Asn
ENST00000372874.8:c.513G>C	ENSP00000361965.4:p.Lys171Asn
ENST00000464097.5:n.187G>C
ENST00000492931.5:n.597G>C
ENST00000536532.5:c.513G>C	ENSP00000440946.1:p.Lys171Asn
ENST00000537820.1:c.513G>C	ENSP00000441818.1:p.Lys171Asn
ENST00000539235.5:c.219-1217G>C	ENSP00000446464.1:n.219-1217G>C
NM_000022.2:c.513G>C , LRG_16t1:c.513G>C	NP_000013.2:p.Lys171Asn
XM_005260236.2:c.513G>C	XP_005260293.1:p.Lys171Asn
XM_011528478.1:c.108G>C	XP_011526780.1:p.Lys36Asn
XM_011528479.1:c.108G>C	XP_011526781.1:p.Lys36Asn
XR_244129.1:n.567G>C
NM_000022.3:c.513G>C	NP_000013.2:p.Lys171Asn
NM_001322050.1:c.108G>C	NP_001308979.1:p.Lys36Asn
NM_001322051.1:c.513G>C	NP_001308980.1:p.Lys171Asn
NR_136160.1:n.664G>C
NM_000022.4:c.513G>C MANE Select	NP_000013.2:p.Lys171Asn
NM_001322050.2:c.108G>C	NP_001308979.1:p.Lys36Asn
NM_001322051.2:c.513G>C	NP_001308980.1:p.Lys171Asn
NR_136160.2:n.605G>C