Canonical Allele Identifier: CA744696926
Gene: ADA HGNC NCBI

Linked Data

dbSNP Id: rs1275260666
gnomAD v4: 20-44651890-G-A
MyVariant Identifiers: chr20:g.43280531G>A (hg19) chr20:g.44651890G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44651890G>A , CM000682.2:g.44651890G>A GRCh38
NC_000020.10:g.43280531G>A , CM000682.1:g.43280531G>A GRCh37
NC_000020.9:g.42713945G>A NCBI36
NG_007385.1:g.4846C>T , LRG_16:g.4846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000536076.2:c.-121+12C>T ENSP00000512234.1:n.-121+12C>T
ENST00000696039.1:n.321+12C>T
ENST00000696062.1:c.96+210C>T ENSP00000512365.1:n.96+210C>T
ENST00000696064.1:c.-118+12C>T ENSP00000512367.1:n.-118+12C>T
ENST00000696065.1:c.-121+12C>T ENSP00000512368.1:n.-121+12C>T
ENST00000535573.1:n.332+12C>T
ENST00000536076.1:n.213+12C>T
XM_011528479.1:c.-257+12C>T XP_011526781.1:n.-257+12C>T
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