Canonical Allele Identifier: CA510594592

Gene: ADA

Linked Data

• ClinVar Variation Id: 1582530
• ClinVar RCV Id: RCV002097516
• dbSNP Id: rs2145320017
• gnomAD v4: 20-44626584-A-G
• MyVariant Identifiers: chr20:g.43255225A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44626584A>G , CM000682.2:g.44626584A>G	GRCh38
NC_000020.10:g.43255225A>G , CM000682.1:g.43255225A>G	GRCh37
NC_000020.9:g.42688639A>G	NCBI36
NG_007385.1:g.30152T>C , LRG_16:g.30152T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.325T>C
ENST00000536076.2:c.81T>C	ENSP00000512234.1:p.Ala27=
ENST00000536532.6:c.234T>C	ENSP00000440946.1:p.Ala78=
ENST00000537820.2:c.234T>C	ENSP00000441818.1:p.Ala78=
ENST00000539235.6:c.218+2463T>C	ENSP00000446464.1:n.218+2463T>C
ENST00000695889.1:c.218+2463T>C	ENSP00000512240.1:n.218+2463T>C
ENST00000695890.1:n.2037T>C
ENST00000695891.1:c.218+2463T>C	ENSP00000512241.1:n.218+2463T>C
ENST00000695927.1:c.312T>C	ENSP00000512270.1:p.Ala104=
ENST00000695949.1:c.231T>C	ENSP00000512281.1:p.Ala77=
ENST00000695957.1:c.234T>C	ENSP00000512286.1:p.Ala78=
ENST00000695991.1:c.216+2465T>C	ENSP00000512314.1:n.216+2465T>C
ENST00000695992.1:c.234T>C	ENSP00000512315.1:p.Ala78=
ENST00000695993.1:c.234T>C	ENSP00000512316.1:p.Ala78=
ENST00000695994.1:c.234T>C	ENSP00000512317.1:p.Ala78=
ENST00000695995.1:c.216+2465T>C	ENSP00000512318.1:n.216+2465T>C
ENST00000695996.1:n.305T>C
ENST00000695997.1:n.305T>C
ENST00000696003.1:n.326T>C
ENST00000696004.1:n.326T>C
ENST00000696006.1:c.234T>C	ENSP00000512325.1:p.Ala78=
ENST00000696007.1:c.201T>C	ENSP00000512326.1:p.Ala67=
ENST00000696009.1:n.345T>C
ENST00000696017.1:c.231T>C	ENSP00000512333.1:p.Ala77=
ENST00000696034.1:c.234T>C	ENSP00000512343.1:p.Ala78=
ENST00000696035.1:n.344T>C
ENST00000696036.1:n.924T>C
ENST00000696037.1:n.1911T>C
ENST00000696038.1:c.232T>C	ENSP00000512344.1:p.Tyr78His
ENST00000696039.1:n.522T>C
ENST00000696058.1:c.234T>C	ENSP00000512361.1:p.Ala78=
ENST00000696059.1:c.*179T>C	ENSP00000512362.1:n.*179T>C
ENST00000696060.1:c.234T>C	ENSP00000512363.1:p.Ala78=
ENST00000696061.1:c.231T>C	ENSP00000512364.1:p.Ala77=
ENST00000696062.1:c.297T>C	ENSP00000512365.1:p.Ala99=
ENST00000696063.1:c.309T>C	ENSP00000512366.1:p.Ala103=
ENST00000696064.1:c.81T>C	ENSP00000512367.1:p.Ala27=
ENST00000696065.1:c.65+2463T>C	ENSP00000512368.1:n.65+2463T>C
ENST00000696075.1:c.*204T>C	ENSP00000512374.1:n.*204T>C
ENST00000696076.1:c.234T>C	ENSP00000512375.1:p.Ala78=
ENST00000696077.1:c.231T>C	ENSP00000512376.1:p.Ala77=
ENST00000696078.1:c.234T>C	ENSP00000512377.1:p.Ala78=
ENST00000696079.1:c.234T>C	ENSP00000512378.1:p.Ala78=
ENST00000696080.1:c.234T>C	ENSP00000512379.1:p.Ala78=
ENST00000696082.1:c.312T>C	ENSP00000512380.1:p.Ala104=
ENST00000696084.1:n.335T>C
ENST00000696104.1:c.234T>C	ENSP00000512399.1:p.Ala78=
ENST00000696105.1:c.234T>C	ENSP00000512400.1:p.Ala78=
ENST00000372874.9:c.234T>C MANE Select	ENSP00000361965.4:p.Ala78=
ENST00000372874.8:c.234T>C	ENSP00000361965.4:p.Ala78=
ENST00000492931.5:n.318T>C
ENST00000536076.1:n.414T>C
ENST00000536532.5:c.234T>C	ENSP00000440946.1:p.Ala78=
ENST00000537820.1:c.234T>C	ENSP00000441818.1:p.Ala78=
ENST00000539235.5:c.218+2463T>C	ENSP00000446464.1:n.218+2463T>C
ENST00000545776.5:n.288T>C
NM_000022.2:c.234T>C , LRG_16t1:c.234T>C	NP_000013.2:p.Ala78=
XM_005260236.2:c.234T>C	XP_005260293.1:p.Ala78=
XM_011528478.1:c.-56T>C	XP_011526780.1:n.-56T>C
XM_011528479.1:c.-56T>C	XP_011526781.1:n.-56T>C
XR_244129.1:n.288T>C
NM_000022.3:c.234T>C	NP_000013.2:p.Ala78=
NM_001322050.1:c.-56T>C	NP_001308979.1:n.-56T>C
NM_001322051.1:c.234T>C	NP_001308980.1:p.Ala78=
NR_136160.1:n.385T>C
NM_000022.4:c.234T>C MANE Select	NP_000013.2:p.Ala78=
NM_001322050.2:c.-56T>C	NP_001308979.1:n.-56T>C
NM_001322051.2:c.234T>C	NP_001308980.1:p.Ala78=
NR_136160.2:n.326T>C