Canonical Allele Identifier: CA635985499
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs1258966563
gnomAD v2: 20-43280424-C-T
gnomAD v3: 20-44651783-C-T
gnomAD v4: 20-44651783-C-T
MyVariant Identifiers: chr20:g.43280424C>T (hg19) chr20:g.44651783C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651783C>T , CM000682.2:g.44651783C>T GRCh38
NC_000020.10:g.43280424C>T , CM000682.1:g.43280424C>T GRCh37
NC_000020.9:g.42713838C>T NCBI36
NG_007385.1:g.4953G>A , LRG_16:g.4953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+119G>A ENSP00000512234.1:n.-121+119G>A
ENST00000696039.1:n.321+119G>A
ENST00000696062.1:c.96+317G>A ENSP00000512365.1:n.96+317G>A
ENST00000696064.1:c.-118+119G>A ENSP00000512367.1:n.-118+119G>A
ENST00000696065.1:c.-121+119G>A ENSP00000512368.1:n.-121+119G>A
ENST00000535573.1:n.332+119G>A
ENST00000536076.1:n.213+119G>A
XM_011528479.1:c.-257+119G>A XP_011526781.1:n.-257+119G>A
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