Canonical Allele Identifier: CA315457290

Gene: ADA

Linked Data

• ClinVar Variation Id: 897085
• ClinVar RCV Id: RCV001140168
• dbSNP Id: rs997075639
• gnomAD v2: 20-43280371-C-T
• gnomAD v3: 20-44651730-C-T
• gnomAD v4: 20-44651730-C-T
• MyVariant Identifiers: chr20:g.43280371C>T (hg19) ; chr20:g.44651730C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651730C>T , CM000682.2:g.44651730C>T	GRCh38
NC_000020.10:g.43280371C>T , CM000682.1:g.43280371C>T	GRCh37
NC_000020.9:g.42713785C>T	NCBI36
NG_007385.1:g.5006G>A , LRG_16:g.5006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+172G>A	ENSP00000512234.1:n.-121+172G>A
ENST00000537820.2:c.-123G>A	ENSP00000441818.1:n.-123G>A
ENST00000696039.1:n.321+172G>A
ENST00000696060.1:c.-123G>A	ENSP00000512363.1:n.-123G>A
ENST00000696061.1:c.-123G>A	ENSP00000512364.1:n.-123G>A
ENST00000696062.1:c.96+370G>A	ENSP00000512365.1:n.96+370G>A
ENST00000696064.1:c.-118+172G>A	ENSP00000512367.1:n.-118+172G>A
ENST00000696065.1:c.-121+172G>A	ENSP00000512368.1:n.-121+172G>A
ENST00000696077.1:c.-123G>A	ENSP00000512376.1:n.-123G>A
ENST00000696078.1:c.-123G>A	ENSP00000512377.1:n.-123G>A
ENST00000372874.8:c.-123G>A	ENSP00000361965.4:n.-123G>A
ENST00000535573.1:n.332+172G>A
ENST00000536076.1:n.213+172G>A
NM_000022.2:c.-123G>A , LRG_16t1:c.-123G>A	NP_000013.2:n.-123G>A
XM_011528479.1:c.-257+172G>A	XP_011526781.1:n.-257+172G>A
NM_000022.3:c.-123G>A	NP_000013.2:n.-123G>A
NM_001322050.1:c.-412G>A	NP_001308979.1:n.-412G>A
NM_001322051.1:c.-123G>A	NP_001308980.1:n.-123G>A
NR_136160.1:n.29G>A