Canonical Allele Identifier: CA510594353

Gene: ADA

Linked Data

• MyVariant Identifiers: chr20:g.43255165C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626524C>G , CM000682.2:g.44626524C>G	GRCh38
NC_000020.10:g.43255165C>G , CM000682.1:g.43255165C>G	GRCh37
NC_000020.9:g.42688579C>G	NCBI36
NG_007385.1:g.30212G>C , LRG_16:g.30212G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.385G>C
ENST00000536076.2:c.141G>C	ENSP00000512234.1:p.Val47=
ENST00000536532.6:c.294G>C	ENSP00000440946.1:p.Val98=
ENST00000537820.2:c.294G>C	ENSP00000441818.1:p.Val98=
ENST00000539235.6:c.218+2523G>C	ENSP00000446464.1:n.218+2523G>C
ENST00000695889.1:c.218+2523G>C	ENSP00000512240.1:n.218+2523G>C
ENST00000695890.1:n.2097G>C
ENST00000695891.1:c.218+2523G>C	ENSP00000512241.1:n.218+2523G>C
ENST00000695927.1:c.372G>C	ENSP00000512270.1:p.Val124=
ENST00000695949.1:c.291G>C	ENSP00000512281.1:p.Val97=
ENST00000695957.1:c.294G>C	ENSP00000512286.1:p.Val98=
ENST00000695991.1:c.216+2525G>C	ENSP00000512314.1:n.216+2525G>C
ENST00000695992.1:c.294G>C	ENSP00000512315.1:p.Val98=
ENST00000695993.1:c.294G>C	ENSP00000512316.1:p.Val98=
ENST00000695994.1:c.294G>C	ENSP00000512317.1:p.Val98=
ENST00000695995.1:c.216+2525G>C	ENSP00000512318.1:n.216+2525G>C
ENST00000695996.1:n.365G>C
ENST00000695997.1:n.365G>C
ENST00000696003.1:n.386G>C
ENST00000696004.1:n.386G>C
ENST00000696006.1:c.294G>C	ENSP00000512325.1:p.Val98=
ENST00000696007.1:c.261G>C	ENSP00000512326.1:p.Val87=
ENST00000696009.1:n.405G>C
ENST00000696017.1:c.291G>C	ENSP00000512333.1:p.Val97=
ENST00000696034.1:c.294G>C	ENSP00000512343.1:p.Val98=
ENST00000696035.1:n.404G>C
ENST00000696036.1:n.984G>C
ENST00000696037.1:n.1971G>C
ENST00000696038.1:c.*40G>C	ENSP00000512344.1:n.*40G>C
ENST00000696039.1:n.582G>C
ENST00000696058.1:c.294G>C	ENSP00000512361.1:p.Val98=
ENST00000696059.1:c.*239G>C	ENSP00000512362.1:n.*239G>C
ENST00000696060.1:c.294G>C	ENSP00000512363.1:p.Val98=
ENST00000696061.1:c.291G>C	ENSP00000512364.1:p.Val97=
ENST00000696062.1:c.357G>C	ENSP00000512365.1:p.Val119=
ENST00000696063.1:c.369G>C	ENSP00000512366.1:p.Val123=
ENST00000696064.1:c.141G>C	ENSP00000512367.1:p.Val47=
ENST00000696065.1:c.65+2523G>C	ENSP00000512368.1:n.65+2523G>C
ENST00000696075.1:c.*264G>C	ENSP00000512374.1:n.*264G>C
ENST00000696076.1:c.294G>C	ENSP00000512375.1:p.Val98=
ENST00000696077.1:c.291G>C	ENSP00000512376.1:p.Val97=
ENST00000696078.1:c.294G>C	ENSP00000512377.1:p.Val98=
ENST00000696079.1:c.294G>C	ENSP00000512378.1:p.Val98=
ENST00000696080.1:c.294G>C	ENSP00000512379.1:p.Val98=
ENST00000696082.1:c.372G>C	ENSP00000512380.1:p.Val124=
ENST00000696084.1:n.395G>C
ENST00000696104.1:c.294G>C	ENSP00000512399.1:p.Val98=
ENST00000696105.1:c.294G>C	ENSP00000512400.1:p.Val98=
ENST00000372874.9:c.294G>C MANE Select	ENSP00000361965.4:p.Val98=
ENST00000372874.8:c.294G>C	ENSP00000361965.4:p.Val98=
ENST00000492931.5:n.378G>C
ENST00000536076.1:n.474G>C
ENST00000536532.5:c.294G>C	ENSP00000440946.1:p.Val98=
ENST00000537820.1:c.294G>C	ENSP00000441818.1:p.Val98=
ENST00000539235.5:c.218+2523G>C	ENSP00000446464.1:n.218+2523G>C
ENST00000545776.5:n.348G>C
NM_000022.2:c.294G>C , LRG_16t1:c.294G>C	NP_000013.2:p.Val98=
XM_005260236.2:c.294G>C	XP_005260293.1:p.Val98=
XM_011528478.1:c.5G>C	XP_011526780.1:p.Trp2Ser
XM_011528479.1:c.5G>C	XP_011526781.1:p.Trp2Ser
XR_244129.1:n.348G>C
NM_000022.3:c.294G>C	NP_000013.2:p.Val98=
NM_001322050.1:c.5G>C	NP_001308979.1:p.Trp2Ser
NM_001322051.1:c.294G>C	NP_001308980.1:p.Val98=
NR_136160.1:n.445G>C
NM_000022.4:c.294G>C MANE Select	NP_000013.2:p.Val98=
NM_001322050.2:c.5G>C	NP_001308979.1:p.Trp2Ser
NM_001322051.2:c.294G>C	NP_001308980.1:p.Val98=
NR_136160.2:n.386G>C