Canonical Allele Identifier: CA2652992748

Gene: ADA

Linked Data

• gnomAD v4: 20-44651985-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651985C>A , CM000682.2:g.44651985C>A	GRCh38
NC_000020.10:g.43280626C>A , CM000682.1:g.43280626C>A	GRCh37
NC_000020.9:g.42714040C>A	NCBI36
NG_007385.1:g.4751G>T , LRG_16:g.4751G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-204G>T	ENSP00000512234.1:n.-204G>T
ENST00000696039.1:n.238G>T
ENST00000696062.1:c.96+115G>T	ENSP00000512365.1:n.96+115G>T
ENST00000696064.1:c.-201G>T	ENSP00000512367.1:n.-201G>T
ENST00000535573.1:n.249G>T
ENST00000536076.1:n.130G>T
XM_011528479.1:c.-340G>T	XP_011526781.1:n.-340G>T