Canonical Allele Identifier: CA2652992750
Gene: ADA HGNC NCBI

Linked Data

gnomAD v4: 20-44651986-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651986T>G , CM000682.2:g.44651986T>G GRCh38
NC_000020.10:g.43280627T>G , CM000682.1:g.43280627T>G GRCh37
NC_000020.9:g.42714041T>G NCBI36
NG_007385.1:g.4750A>C , LRG_16:g.4750A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-205A>C ENSP00000512234.1:n.-205A>C
ENST00000696039.1:n.237A>C
ENST00000696062.1:c.96+114A>C ENSP00000512365.1:n.96+114A>C
ENST00000696064.1:c.-202A>C ENSP00000512367.1:n.-202A>C
ENST00000535573.1:n.248A>C
ENST00000536076.1:n.129A>C
XM_011528479.1:c.-341A>C XP_011526781.1:n.-341A>C
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