Canonical Allele Identifier: CA2365869159

Gene: ADA

Linked Data

• dbSNP Id: rs2065651792
• gnomAD v4: 20-44651922-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651922C>A , CM000682.2:g.44651922C>A	GRCh38
NC_000020.10:g.43280563C>A , CM000682.1:g.43280563C>A	GRCh37
NC_000020.9:g.42713977C>A	NCBI36
NG_007385.1:g.4814G>T , LRG_16:g.4814G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-141G>T	ENSP00000512234.1:n.-141G>T
ENST00000696039.1:n.301G>T
ENST00000696062.1:c.96+178G>T	ENSP00000512365.1:n.96+178G>T
ENST00000696064.1:c.-138G>T	ENSP00000512367.1:n.-138G>T
ENST00000535573.1:n.312G>T
ENST00000536076.1:n.193G>T
XM_011528479.1:c.-277G>T	XP_011526781.1:n.-277G>T