Canonical Allele Identifier: CA1017849006
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs1275260666
gnomAD v3: 20-44651890-G-T
gnomAD v4: 20-44651890-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651890G>T , CM000682.2:g.44651890G>T GRCh38
NC_000020.10:g.43280531G>T , CM000682.1:g.43280531G>T GRCh37
NC_000020.9:g.42713945G>T NCBI36
NG_007385.1:g.4846C>A , LRG_16:g.4846C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+12C>A ENSP00000512234.1:n.-121+12C>A
ENST00000696039.1:n.321+12C>A
ENST00000696062.1:c.96+210C>A ENSP00000512365.1:n.96+210C>A
ENST00000696064.1:c.-118+12C>A ENSP00000512367.1:n.-118+12C>A
ENST00000696065.1:c.-121+12C>A ENSP00000512368.1:n.-121+12C>A
ENST00000535573.1:n.332+12C>A
ENST00000536076.1:n.213+12C>A
XM_011528479.1:c.-257+12C>A XP_011526781.1:n.-257+12C>A
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