Canonical Allele Identifier: CA2652992432

Gene: ADA

Linked Data

• gnomAD v4: 20-44651697-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651697A>G , CM000682.2:g.44651697A>G	GRCh38
NC_000020.10:g.43280338A>G , CM000682.1:g.43280338A>G	GRCh37
NC_000020.9:g.42713752A>G	NCBI36
NG_007385.1:g.5039T>C , LRG_16:g.5039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000492931.6:n.2T>C
ENST00000536076.2:c.-121+205T>C	ENSP00000512234.1:n.-121+205T>C
ENST00000537820.2:c.-90T>C	ENSP00000441818.1:n.-90T>C
ENST00000695889.1:c.-90T>C	ENSP00000512240.1:n.-90T>C
ENST00000695949.1:c.-90T>C	ENSP00000512281.1:n.-90T>C
ENST00000695993.1:c.-90T>C	ENSP00000512316.1:n.-90T>C
ENST00000696003.1:n.3T>C
ENST00000696004.1:n.3T>C
ENST00000696006.1:c.-90T>C	ENSP00000512325.1:n.-90T>C
ENST00000696009.1:n.22T>C
ENST00000696010.1:n.24T>C
ENST00000696034.1:c.-90T>C	ENSP00000512343.1:n.-90T>C
ENST00000696038.1:c.-90T>C	ENSP00000512344.1:n.-90T>C
ENST00000696039.1:n.321+205T>C
ENST00000696059.1:c.-90T>C	ENSP00000512362.1:n.-90T>C
ENST00000696060.1:c.-90T>C	ENSP00000512363.1:n.-90T>C
ENST00000696061.1:c.-90T>C	ENSP00000512364.1:n.-90T>C
ENST00000696062.1:c.96+403T>C	ENSP00000512365.1:n.96+403T>C
ENST00000696064.1:c.-118+205T>C	ENSP00000512367.1:n.-118+205T>C
ENST00000696065.1:c.-121+205T>C	ENSP00000512368.1:n.-121+205T>C
ENST00000696075.1:c.-90T>C	ENSP00000512374.1:n.-90T>C
ENST00000696076.1:c.-90T>C	ENSP00000512375.1:n.-90T>C
ENST00000696077.1:c.-90T>C	ENSP00000512376.1:n.-90T>C
ENST00000696078.1:c.-90T>C	ENSP00000512377.1:n.-90T>C
ENST00000696080.1:c.-90T>C	ENSP00000512379.1:n.-90T>C
ENST00000696084.1:n.12T>C
ENST00000696104.1:c.-90T>C	ENSP00000512399.1:n.-90T>C
ENST00000696105.1:c.-90T>C	ENSP00000512400.1:n.-90T>C
ENST00000372874.9:c.-90T>C MANE Select	ENSP00000361965.4:n.-90T>C
ENST00000372874.8:c.-90T>C	ENSP00000361965.4:n.-90T>C
ENST00000535573.1:n.332+205T>C
ENST00000536076.1:n.213+205T>C
NM_000022.2:c.-90T>C , LRG_16t1:c.-90T>C	NP_000013.2:n.-90T>C
XM_011528479.1:c.-257+205T>C	XP_011526781.1:n.-257+205T>C
NM_000022.3:c.-90T>C	NP_000013.2:n.-90T>C
NM_001322050.1:c.-379T>C	NP_001308979.1:n.-379T>C
NM_001322051.1:c.-90T>C	NP_001308980.1:n.-90T>C
NR_136160.1:n.62T>C
NM_000022.4:c.-90T>C MANE Select	NP_000013.2:n.-90T>C
NM_001322050.2:c.-379T>C	NP_001308979.1:n.-379T>C
NM_001322051.2:c.-90T>C	NP_001308980.1:n.-90T>C
NR_136160.2:n.3T>C