Canonical Allele Identifier: CA315457343
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs931366902
gnomAD v4: 20-44651880-C-G
MyVariant Identifiers: chr20:g.43280521C>G (hg19) chr20:g.44651880C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651880C>G , CM000682.2:g.44651880C>G GRCh38
NC_000020.10:g.43280521C>G , CM000682.1:g.43280521C>G GRCh37
NC_000020.9:g.42713935C>G NCBI36
NG_007385.1:g.4856G>C , LRG_16:g.4856G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+22G>C ENSP00000512234.1:n.-121+22G>C
ENST00000696039.1:n.321+22G>C
ENST00000696062.1:c.96+220G>C ENSP00000512365.1:n.96+220G>C
ENST00000696064.1:c.-118+22G>C ENSP00000512367.1:n.-118+22G>C
ENST00000696065.1:c.-121+22G>C ENSP00000512368.1:n.-121+22G>C
ENST00000535573.1:n.332+22G>C
ENST00000536076.1:n.213+22G>C
XM_011528479.1:c.-257+22G>C XP_011526781.1:n.-257+22G>C
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