Canonical Allele Identifier: CA315457342
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs926715947
gnomAD v3: 20-44651875-G-A
gnomAD v4: 20-44651875-G-A
MyVariant Identifiers: chr20:g.43280516G>A (hg19) chr20:g.44651875G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651875G>A , CM000682.2:g.44651875G>A GRCh38
NC_000020.10:g.43280516G>A , CM000682.1:g.43280516G>A GRCh37
NC_000020.9:g.42713930G>A NCBI36
NG_007385.1:g.4861C>T , LRG_16:g.4861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+27C>T ENSP00000512234.1:n.-121+27C>T
ENST00000696039.1:n.321+27C>T
ENST00000696062.1:c.96+225C>T ENSP00000512365.1:n.96+225C>T
ENST00000696064.1:c.-118+27C>T ENSP00000512367.1:n.-118+27C>T
ENST00000696065.1:c.-121+27C>T ENSP00000512368.1:n.-121+27C>T
ENST00000535573.1:n.332+27C>T
ENST00000536076.1:n.213+27C>T
XM_011528479.1:c.-257+27C>T XP_011526781.1:n.-257+27C>T
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