Canonical Allele Identifier: CA510593784

Gene: ADA

Linked Data

• gnomAD v4: 20-44624304-C-G
• MyVariant Identifiers: chr20:g.43252945C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44624304C>G , CM000682.2:g.44624304C>G	GRCh38
NC_000020.10:g.43252945C>G , CM000682.1:g.43252945C>G	GRCh37
NC_000020.9:g.42686359C>G	NCBI36
NG_007385.1:g.32432G>C , LRG_16:g.32432G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.595G>C
ENST00000536076.2:c.351G>C	ENSP00000512234.1:p.Leu117=
ENST00000536532.6:c.504G>C	ENSP00000440946.1:p.Leu168=
ENST00000537820.2:c.504G>C	ENSP00000441818.1:p.Leu168=
ENST00000539235.6:c.219-1226G>C	ENSP00000446464.1:n.219-1226G>C
ENST00000695889.1:c.219-1374G>C	ENSP00000512240.1:n.219-1374G>C
ENST00000695890.1:n.2307G>C
ENST00000695891.1:c.219-1374G>C	ENSP00000512241.1:n.219-1374G>C
ENST00000695927.1:c.582G>C	ENSP00000512270.1:p.Leu194=
ENST00000695949.1:c.501G>C	ENSP00000512281.1:p.Leu167=
ENST00000695957.1:c.388G>C	ENSP00000512286.1:p.Val130Leu
ENST00000695991.1:c.217-1374G>C	ENSP00000512314.1:n.217-1374G>C
ENST00000695992.1:c.504G>C	ENSP00000512315.1:p.Leu168=
ENST00000695993.1:c.504G>C	ENSP00000512316.1:p.Leu168=
ENST00000695994.1:c.504G>C	ENSP00000512317.1:p.Leu168=
ENST00000695995.1:c.217-1226G>C	ENSP00000512318.1:n.217-1226G>C
ENST00000695996.1:n.575G>C
ENST00000695997.1:n.459G>C
ENST00000696003.1:n.596G>C
ENST00000696004.1:n.596G>C
ENST00000696005.1:c.26G>C
ENST00000696006.1:c.504G>C	ENSP00000512325.1:p.Leu168=
ENST00000696007.1:c.355G>C	ENSP00000512326.1:p.Val119Leu
ENST00000696008.1:n.1659G>C
ENST00000696009.1:n.1854G>C
ENST00000696017.1:c.501G>C	ENSP00000512333.1:p.Leu167=
ENST00000696034.1:c.504G>C	ENSP00000512343.1:p.Leu168=
ENST00000696035.1:n.614G>C
ENST00000696036.1:n.1194G>C
ENST00000696037.1:n.2181G>C
ENST00000696038.1:c.*250G>C	ENSP00000512344.1:n.*250G>C
ENST00000696039.1:n.792G>C
ENST00000696058.1:c.504G>C	ENSP00000512361.1:p.Leu168=
ENST00000696059.1:c.*449G>C	ENSP00000512362.1:n.*449G>C
ENST00000696060.1:c.504G>C	ENSP00000512363.1:p.Leu168=
ENST00000696061.1:c.501G>C	ENSP00000512364.1:p.Leu167=
ENST00000696062.1:c.567G>C	ENSP00000512365.1:p.Leu189=
ENST00000696063.1:c.579G>C	ENSP00000512366.1:p.Leu193=
ENST00000696064.1:c.351G>C	ENSP00000512367.1:p.Leu117=
ENST00000696065.1:c.66-1374G>C	ENSP00000512368.1:n.66-1374G>C
ENST00000696074.1:n.120G>C
ENST00000696075.1:c.*474G>C	ENSP00000512374.1:n.*474G>C
ENST00000696076.1:c.504G>C	ENSP00000512375.1:p.Leu168=
ENST00000696077.1:c.501G>C	ENSP00000512376.1:p.Leu167=
ENST00000696078.1:c.504G>C	ENSP00000512377.1:p.Leu168=
ENST00000696079.1:c.504G>C	ENSP00000512378.1:p.Leu168=
ENST00000696080.1:c.504G>C	ENSP00000512379.1:p.Leu168=
ENST00000696081.1:n.623G>C
ENST00000696082.1:c.582G>C	ENSP00000512380.1:p.Leu194=
ENST00000696083.1:n.1385G>C
ENST00000696084.1:n.605G>C
ENST00000696104.1:c.363-1374G>C	ENSP00000512399.1:n.363-1374G>C
ENST00000696105.1:c.*45G>C	ENSP00000512400.1:n.*45G>C
ENST00000372874.9:c.504G>C MANE Select	ENSP00000361965.4:p.Leu168=
ENST00000372874.8:c.504G>C	ENSP00000361965.4:p.Leu168=
ENST00000464097.5:n.178G>C
ENST00000492931.5:n.588G>C
ENST00000536532.5:c.504G>C	ENSP00000440946.1:p.Leu168=
ENST00000537820.1:c.504G>C	ENSP00000441818.1:p.Leu168=
ENST00000539235.5:c.219-1226G>C	ENSP00000446464.1:n.219-1226G>C
NM_000022.2:c.504G>C , LRG_16t1:c.504G>C	NP_000013.2:p.Leu168=
XM_005260236.2:c.504G>C	XP_005260293.1:p.Leu168=
XM_011528478.1:c.99G>C	XP_011526780.1:p.Leu33=
XM_011528479.1:c.99G>C	XP_011526781.1:p.Leu33=
XR_244129.1:n.558G>C
NM_000022.3:c.504G>C	NP_000013.2:p.Leu168=
NM_001322050.1:c.99G>C	NP_001308979.1:p.Leu33=
NM_001322051.1:c.504G>C	NP_001308980.1:p.Leu168=
NR_136160.1:n.655G>C
NM_000022.4:c.504G>C MANE Select	NP_000013.2:p.Leu168=
NM_001322050.2:c.99G>C	NP_001308979.1:p.Leu33=
NM_001322051.2:c.504G>C	NP_001308980.1:p.Leu168=
NR_136160.2:n.596G>C