Canonical Allele Identifier: CA2816478398

Gene: ADA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651723T>G , CM000682.2:g.44651723T>G	GRCh38
NC_000020.10:g.43280364T>G , CM000682.1:g.43280364T>G	GRCh37
NC_000020.9:g.42713778T>G	NCBI36
NG_007385.1:g.5013A>C , LRG_16:g.5013A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+179A>C	ENSP00000512234.1:n.-121+179A>C
ENST00000537820.2:c.-116A>C	ENSP00000441818.1:n.-116A>C
ENST00000695949.1:c.-116A>C	ENSP00000512281.1:n.-116A>C
ENST00000696039.1:n.321+179A>C
ENST00000696060.1:c.-116A>C	ENSP00000512363.1:n.-116A>C
ENST00000696061.1:c.-116A>C	ENSP00000512364.1:n.-116A>C
ENST00000696062.1:c.96+377A>C	ENSP00000512365.1:n.96+377A>C
ENST00000696064.1:c.-118+179A>C	ENSP00000512367.1:n.-118+179A>C
ENST00000696065.1:c.-121+179A>C	ENSP00000512368.1:n.-121+179A>C
ENST00000696077.1:c.-116A>C	ENSP00000512376.1:n.-116A>C
ENST00000696078.1:c.-116A>C	ENSP00000512377.1:n.-116A>C
ENST00000372874.8:c.-116A>C	ENSP00000361965.4:n.-116A>C
ENST00000535573.1:n.332+179A>C
ENST00000536076.1:n.213+179A>C
NM_000022.2:c.-116A>C , LRG_16t1:c.-116A>C	NP_000013.2:n.-116A>C
XM_011528479.1:c.-257+179A>C	XP_011526781.1:n.-257+179A>C
NM_000022.3:c.-116A>C	NP_000013.2:n.-116A>C
NM_001322050.1:c.-405A>C	NP_001308979.1:n.-405A>C
NM_001322051.1:c.-116A>C	NP_001308980.1:n.-116A>C
NR_136160.1:n.36A>C