Canonical Allele Identifier: CA1017848935

Gene: ADA

Linked Data

• dbSNP Id: rs2065648847
• gnomAD v3: 20-44651710-G-A
• gnomAD v4: 20-44651710-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651710G>A , CM000682.2:g.44651710G>A	GRCh38
NC_000020.10:g.43280351G>A , CM000682.1:g.43280351G>A	GRCh37
NC_000020.9:g.42713765G>A	NCBI36
NG_007385.1:g.5026C>T , LRG_16:g.5026C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+192C>T	ENSP00000512234.1:n.-121+192C>T
ENST00000537820.2:c.-103C>T	ENSP00000441818.1:n.-103C>T
ENST00000695949.1:c.-103C>T	ENSP00000512281.1:n.-103C>T
ENST00000695993.1:c.-103C>T	ENSP00000512316.1:n.-103C>T
ENST00000696006.1:c.-103C>T	ENSP00000512325.1:n.-103C>T
ENST00000696009.1:n.9C>T
ENST00000696010.1:n.11C>T
ENST00000696039.1:n.321+192C>T
ENST00000696059.1:c.-103C>T	ENSP00000512362.1:n.-103C>T
ENST00000696060.1:c.-103C>T	ENSP00000512363.1:n.-103C>T
ENST00000696061.1:c.-103C>T	ENSP00000512364.1:n.-103C>T
ENST00000696062.1:c.96+390C>T	ENSP00000512365.1:n.96+390C>T
ENST00000696064.1:c.-118+192C>T	ENSP00000512367.1:n.-118+192C>T
ENST00000696065.1:c.-121+192C>T	ENSP00000512368.1:n.-121+192C>T
ENST00000696076.1:c.-103C>T	ENSP00000512375.1:n.-103C>T
ENST00000696077.1:c.-103C>T	ENSP00000512376.1:n.-103C>T
ENST00000696078.1:c.-103C>T	ENSP00000512377.1:n.-103C>T
ENST00000696080.1:c.-103C>T	ENSP00000512379.1:n.-103C>T
ENST00000372874.8:c.-103C>T	ENSP00000361965.4:n.-103C>T
ENST00000535573.1:n.332+192C>T
ENST00000536076.1:n.213+192C>T
NM_000022.2:c.-103C>T , LRG_16t1:c.-103C>T	NP_000013.2:n.-103C>T
XM_011528479.1:c.-257+192C>T	XP_011526781.1:n.-257+192C>T
NM_000022.3:c.-103C>T	NP_000013.2:n.-103C>T
NM_001322050.1:c.-392C>T	NP_001308979.1:n.-392C>T
NM_001322051.1:c.-103C>T	NP_001308980.1:n.-103C>T
NR_136160.1:n.49C>T