Canonical Allele Identifier: CA315457333
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs970955800
gnomAD v3: 20-44651811-G-T
gnomAD v4: 20-44651811-G-T
MyVariant Identifiers: chr20:g.43280452G>T (hg19) chr20:g.44651811G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651811G>T , CM000682.2:g.44651811G>T GRCh38
NC_000020.10:g.43280452G>T , CM000682.1:g.43280452G>T GRCh37
NC_000020.9:g.42713866G>T NCBI36
NG_007385.1:g.4925C>A , LRG_16:g.4925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+91C>A ENSP00000512234.1:n.-121+91C>A
ENST00000696039.1:n.321+91C>A
ENST00000696062.1:c.96+289C>A ENSP00000512365.1:n.96+289C>A
ENST00000696064.1:c.-118+91C>A ENSP00000512367.1:n.-118+91C>A
ENST00000696065.1:c.-121+91C>A ENSP00000512368.1:n.-121+91C>A
ENST00000535573.1:n.332+91C>A
ENST00000536076.1:n.213+91C>A
XM_011528479.1:c.-257+91C>A XP_011526781.1:n.-257+91C>A
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