Canonical Allele Identifier: CA2365869005

Gene: ADA

Linked Data

• dbSNP Id: rs2065648919
• gnomAD v4: 20-44651713-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651713G>C , CM000682.2:g.44651713G>C	GRCh38
NC_000020.10:g.43280354G>C , CM000682.1:g.43280354G>C	GRCh37
NC_000020.9:g.42713768G>C	NCBI36
NG_007385.1:g.5023C>G , LRG_16:g.5023C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+189C>G	ENSP00000512234.1:n.-121+189C>G
ENST00000537820.2:c.-106C>G	ENSP00000441818.1:n.-106C>G
ENST00000695949.1:c.-106C>G	ENSP00000512281.1:n.-106C>G
ENST00000695993.1:c.-106C>G	ENSP00000512316.1:n.-106C>G
ENST00000696006.1:c.-106C>G	ENSP00000512325.1:n.-106C>G
ENST00000696009.1:n.6C>G
ENST00000696010.1:n.8C>G
ENST00000696039.1:n.321+189C>G
ENST00000696059.1:c.-106C>G	ENSP00000512362.1:n.-106C>G
ENST00000696060.1:c.-106C>G	ENSP00000512363.1:n.-106C>G
ENST00000696061.1:c.-106C>G	ENSP00000512364.1:n.-106C>G
ENST00000696062.1:c.96+387C>G	ENSP00000512365.1:n.96+387C>G
ENST00000696064.1:c.-118+189C>G	ENSP00000512367.1:n.-118+189C>G
ENST00000696065.1:c.-121+189C>G	ENSP00000512368.1:n.-121+189C>G
ENST00000696076.1:c.-106C>G	ENSP00000512375.1:n.-106C>G
ENST00000696077.1:c.-106C>G	ENSP00000512376.1:n.-106C>G
ENST00000696078.1:c.-106C>G	ENSP00000512377.1:n.-106C>G
ENST00000696080.1:c.-106C>G	ENSP00000512379.1:n.-106C>G
ENST00000372874.8:c.-106C>G	ENSP00000361965.4:n.-106C>G
ENST00000535573.1:n.332+189C>G
ENST00000536076.1:n.213+189C>G
NM_000022.2:c.-106C>G , LRG_16t1:c.-106C>G	NP_000013.2:n.-106C>G
XM_011528479.1:c.-257+189C>G	XP_011526781.1:n.-257+189C>G
NM_000022.3:c.-106C>G	NP_000013.2:n.-106C>G
NM_001322050.1:c.-395C>G	NP_001308979.1:n.-395C>G
NM_001322051.1:c.-106C>G	NP_001308980.1:n.-106C>G
NR_136160.1:n.46C>G