Canonical Allele Identifier: CA2652992599
Gene: ADA HGNC NCBI

Linked Data

gnomAD v4: 20-44651847-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651847C>A , CM000682.2:g.44651847C>A GRCh38
NC_000020.10:g.43280488C>A , CM000682.1:g.43280488C>A GRCh37
NC_000020.9:g.42713902C>A NCBI36
NG_007385.1:g.4889G>T , LRG_16:g.4889G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+55G>T ENSP00000512234.1:n.-121+55G>T
ENST00000696039.1:n.321+55G>T
ENST00000696062.1:c.96+253G>T ENSP00000512365.1:n.96+253G>T
ENST00000696064.1:c.-118+55G>T ENSP00000512367.1:n.-118+55G>T
ENST00000696065.1:c.-121+55G>T ENSP00000512368.1:n.-121+55G>T
ENST00000535573.1:n.332+55G>T
ENST00000536076.1:n.213+55G>T
XM_011528479.1:c.-257+55G>T XP_011526781.1:n.-257+55G>T
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