Canonical Allele Identifier: CA315457360
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs955968187
gnomAD v3: 20-44651926-T-C
gnomAD v4: 20-44651926-T-C
MyVariant Identifiers: chr20:g.43280567T>C (hg19) chr20:g.44651926T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651926T>C , CM000682.2:g.44651926T>C GRCh38
NC_000020.10:g.43280567T>C , CM000682.1:g.43280567T>C GRCh37
NC_000020.9:g.42713981T>C NCBI36
NG_007385.1:g.4810A>G , LRG_16:g.4810A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-145A>G ENSP00000512234.1:n.-145A>G
ENST00000696039.1:n.297A>G
ENST00000696062.1:c.96+174A>G ENSP00000512365.1:n.96+174A>G
ENST00000696064.1:c.-142A>G ENSP00000512367.1:n.-142A>G
ENST00000535573.1:n.308A>G
ENST00000536076.1:n.189A>G
XM_011528479.1:c.-281A>G XP_011526781.1:n.-281A>G
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