Canonical Allele Identifier: CA1017849012
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs2065651961
gnomAD v3: 20-44651929-C-T
gnomAD v4: 20-44651929-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651929C>T , CM000682.2:g.44651929C>T GRCh38
NC_000020.10:g.43280570C>T , CM000682.1:g.43280570C>T GRCh37
NC_000020.9:g.42713984C>T NCBI36
NG_007385.1:g.4807G>A , LRG_16:g.4807G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-148G>A ENSP00000512234.1:n.-148G>A
ENST00000696039.1:n.294G>A
ENST00000696062.1:c.96+171G>A ENSP00000512365.1:n.96+171G>A
ENST00000696064.1:c.-145G>A ENSP00000512367.1:n.-145G>A
ENST00000535573.1:n.305G>A
ENST00000536076.1:n.186G>A
XM_011528479.1:c.-284G>A XP_011526781.1:n.-284G>A
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