Canonical Allele Identifier: CA2652992736

Gene: ADA

Linked Data

• gnomAD v4: 20-44651969-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651969A>C , CM000682.2:g.44651969A>C	GRCh38
NC_000020.10:g.43280610A>C , CM000682.1:g.43280610A>C	GRCh37
NC_000020.9:g.42714024A>C	NCBI36
NG_007385.1:g.4767T>G , LRG_16:g.4767T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-188T>G	ENSP00000512234.1:n.-188T>G
ENST00000696039.1:n.254T>G
ENST00000696062.1:c.96+131T>G	ENSP00000512365.1:n.96+131T>G
ENST00000696064.1:c.-185T>G	ENSP00000512367.1:n.-185T>G
ENST00000535573.1:n.265T>G
ENST00000536076.1:n.146T>G
XM_011528479.1:c.-324T>G	XP_011526781.1:n.-324T>G