Canonical Allele Identifier: CA2365869186
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs2065652422
gnomAD v4: 20-44651958-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651958A>G , CM000682.2:g.44651958A>G GRCh38
NC_000020.10:g.43280599A>G , CM000682.1:g.43280599A>G GRCh37
NC_000020.9:g.42714013A>G NCBI36
NG_007385.1:g.4778T>C , LRG_16:g.4778T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-177T>C ENSP00000512234.1:n.-177T>C
ENST00000696039.1:n.265T>C
ENST00000696062.1:c.96+142T>C ENSP00000512365.1:n.96+142T>C
ENST00000696064.1:c.-174T>C ENSP00000512367.1:n.-174T>C
ENST00000535573.1:n.276T>C
ENST00000536076.1:n.157T>C
XM_011528479.1:c.-313T>C XP_011526781.1:n.-313T>C
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