Canonical Allele Identifier: CA2652992743

Gene: ADA

Linked Data

• gnomAD v4: 20-44651974-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651974C>T , CM000682.2:g.44651974C>T	GRCh38
NC_000020.10:g.43280615C>T , CM000682.1:g.43280615C>T	GRCh37
NC_000020.9:g.42714029C>T	NCBI36
NG_007385.1:g.4762G>A , LRG_16:g.4762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-193G>A	ENSP00000512234.1:n.-193G>A
ENST00000696039.1:n.249G>A
ENST00000696062.1:c.96+126G>A	ENSP00000512365.1:n.96+126G>A
ENST00000696064.1:c.-190G>A	ENSP00000512367.1:n.-190G>A
ENST00000535573.1:n.260G>A
ENST00000536076.1:n.141G>A
XM_011528479.1:c.-329G>A	XP_011526781.1:n.-329G>A