Canonical Allele Identifier: CA315457369

Gene: ADA

Linked Data

• dbSNP Id: rs992725500
• gnomAD v3: 20-44651927-C-T
• gnomAD v4: 20-44651927-C-T
• MyVariant Identifiers: chr20:g.43280568C>T (hg19) ; chr20:g.44651927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651927C>T , CM000682.2:g.44651927C>T	GRCh38
NC_000020.10:g.43280568C>T , CM000682.1:g.43280568C>T	GRCh37
NC_000020.9:g.42713982C>T	NCBI36
NG_007385.1:g.4809G>A , LRG_16:g.4809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-146G>A	ENSP00000512234.1:n.-146G>A
ENST00000696039.1:n.296G>A
ENST00000696062.1:c.96+173G>A	ENSP00000512365.1:n.96+173G>A
ENST00000696064.1:c.-143G>A	ENSP00000512367.1:n.-143G>A
ENST00000535573.1:n.307G>A
ENST00000536076.1:n.188G>A
XM_011528479.1:c.-282G>A	XP_011526781.1:n.-282G>A