Canonical Allele Identifier: CA2652992695
Gene: ADA HGNC NCBI

Linked Data

gnomAD v4: 20-44651930-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651930T>C , CM000682.2:g.44651930T>C GRCh38
NC_000020.10:g.43280571T>C , CM000682.1:g.43280571T>C GRCh37
NC_000020.9:g.42713985T>C NCBI36
NG_007385.1:g.4806A>G , LRG_16:g.4806A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-149A>G ENSP00000512234.1:n.-149A>G
ENST00000696039.1:n.293A>G
ENST00000696062.1:c.96+170A>G ENSP00000512365.1:n.96+170A>G
ENST00000696064.1:c.-146A>G ENSP00000512367.1:n.-146A>G
ENST00000535573.1:n.304A>G
ENST00000536076.1:n.185A>G
XM_011528479.1:c.-285A>G XP_011526781.1:n.-285A>G
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