Canonical Allele Identifier: CA635985368

Gene: ADA

Linked Data

• dbSNP Id: rs1258461526
• gnomAD v2: 20-43280141-G-C
• gnomAD v3: 20-44651500-G-C
• gnomAD v4: 20-44651500-G-C
• MyVariant Identifiers: chr20:g.43280141G>C (hg19) ; chr20:g.44651500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651500G>C , CM000682.2:g.44651500G>C	GRCh38
NC_000020.10:g.43280141G>C , CM000682.1:g.43280141G>C	GRCh37
NC_000020.9:g.42713555G>C	NCBI36
NG_007385.1:g.5236C>G , LRG_16:g.5236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.124+75C>G
ENST00000536076.2:c.-121+402C>G	ENSP00000512234.1:n.-121+402C>G
ENST00000536532.6:c.33+75C>G	ENSP00000440946.1:n.33+75C>G
ENST00000537820.2:c.33+75C>G	ENSP00000441818.1:n.33+75C>G
ENST00000539235.6:c.33+75C>G	ENSP00000446464.1:n.33+75C>G
ENST00000695889.1:c.33+75C>G	ENSP00000512240.1:n.33+75C>G
ENST00000695891.1:c.33+75C>G	ENSP00000512241.1:n.33+75C>G
ENST00000695949.1:c.33+75C>G	ENSP00000512281.1:n.33+75C>G
ENST00000695957.1:c.33+75C>G	ENSP00000512286.1:n.33+75C>G
ENST00000695991.1:c.33+75C>G	ENSP00000512314.1:n.33+75C>G
ENST00000695992.1:c.33+75C>G	ENSP00000512315.1:n.33+75C>G
ENST00000695993.1:c.33+75C>G	ENSP00000512316.1:n.33+75C>G
ENST00000695994.1:c.33+75C>G	ENSP00000512317.1:n.33+75C>G
ENST00000695995.1:c.33+75C>G	ENSP00000512318.1:n.33+75C>G
ENST00000695996.1:n.104+75C>G
ENST00000695997.1:n.104+75C>G
ENST00000696003.1:n.125+75C>G
ENST00000696004.1:n.125+75C>G
ENST00000696006.1:c.33+75C>G	ENSP00000512325.1:n.33+75C>G
ENST00000696009.1:n.144+75C>G
ENST00000696010.1:n.146+75C>G
ENST00000696017.1:c.33+75C>G	ENSP00000512333.1:n.33+75C>G
ENST00000696034.1:c.33+75C>G	ENSP00000512343.1:n.33+75C>G
ENST00000696038.1:c.33+75C>G	ENSP00000512344.1:n.33+75C>G
ENST00000696039.1:n.321+402C>G
ENST00000696058.1:c.33+75C>G	ENSP00000512361.1:n.33+75C>G
ENST00000696059.1:c.33+75C>G	ENSP00000512362.1:n.33+75C>G
ENST00000696060.1:c.33+75C>G	ENSP00000512363.1:n.33+75C>G
ENST00000696061.1:c.33+75C>G	ENSP00000512364.1:n.33+75C>G
ENST00000696062.1:c.96+600C>G	ENSP00000512365.1:n.96+600C>G
ENST00000696063.1:c.33+75C>G	ENSP00000512366.1:n.33+75C>G
ENST00000696064.1:c.-118+402C>G	ENSP00000512367.1:n.-118+402C>G
ENST00000696065.1:c.-121+402C>G	ENSP00000512368.1:n.-121+402C>G
ENST00000696075.1:c.33+75C>G	ENSP00000512374.1:n.33+75C>G
ENST00000696076.1:c.33+75C>G	ENSP00000512375.1:n.33+75C>G
ENST00000696077.1:c.33+75C>G	ENSP00000512376.1:n.33+75C>G
ENST00000696078.1:c.33+75C>G	ENSP00000512377.1:n.33+75C>G
ENST00000696079.1:c.33+75C>G	ENSP00000512378.1:n.33+75C>G
ENST00000696080.1:c.33+75C>G	ENSP00000512379.1:n.33+75C>G
ENST00000696084.1:n.134+75C>G
ENST00000696104.1:c.33+75C>G	ENSP00000512399.1:n.33+75C>G
ENST00000696105.1:c.33+75C>G	ENSP00000512400.1:n.33+75C>G
ENST00000372874.9:c.33+75C>G MANE Select	ENSP00000361965.4:n.33+75C>G
ENST00000372874.8:c.33+75C>G	ENSP00000361965.4:n.33+75C>G
ENST00000492931.5:n.117+75C>G
ENST00000535573.1:n.332+402C>G
ENST00000536076.1:n.213+402C>G
ENST00000536532.5:c.33+75C>G	ENSP00000440946.1:n.33+75C>G
ENST00000537820.1:c.33+75C>G	ENSP00000441818.1:n.33+75C>G
ENST00000539235.5:c.33+75C>G	ENSP00000446464.1:n.33+75C>G
ENST00000545776.5:n.87+75C>G
NM_000022.2:c.33+75C>G , LRG_16t1:c.33+75C>G	NP_000013.2:n.33+75C>G
XM_005260236.2:c.33+75C>G	XP_005260293.1:n.33+75C>G
XM_011528478.1:c.-257+75C>G	XP_011526780.1:n.-257+75C>G
XM_011528479.1:c.-257+402C>G	XP_011526781.1:n.-257+402C>G
XR_244129.1:n.87+75C>G
NM_000022.3:c.33+75C>G	NP_000013.2:n.33+75C>G
NM_001322050.1:c.-257+75C>G	NP_001308979.1:n.-257+75C>G
NM_001322051.1:c.33+75C>G	NP_001308980.1:n.33+75C>G
NR_136160.1:n.184+75C>G
NM_000022.4:c.33+75C>G MANE Select	NP_000013.2:n.33+75C>G
NM_001322050.2:c.-257+75C>G	NP_001308979.1:n.-257+75C>G
NM_001322051.2:c.33+75C>G	NP_001308980.1:n.33+75C>G
NR_136160.2:n.125+75C>G