Canonical Allele Identifier: CA315457438

Gene: ADA

Linked Data

• dbSNP Id: rs929584843
• gnomAD v2: 20-43280618-C-T
• gnomAD v3: 20-44651977-C-T
• gnomAD v4: 20-44651977-C-T
• MyVariant Identifiers: chr20:g.43280618C>T (hg19) ; chr20:g.44651977C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651977C>T , CM000682.2:g.44651977C>T	GRCh38
NC_000020.10:g.43280618C>T , CM000682.1:g.43280618C>T	GRCh37
NC_000020.9:g.42714032C>T	NCBI36
NG_007385.1:g.4759G>A , LRG_16:g.4759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-196G>A	ENSP00000512234.1:n.-196G>A
ENST00000696039.1:n.246G>A
ENST00000696062.1:c.96+123G>A	ENSP00000512365.1:n.96+123G>A
ENST00000696064.1:c.-193G>A	ENSP00000512367.1:n.-193G>A
ENST00000535573.1:n.257G>A
ENST00000536076.1:n.138G>A
XM_011528479.1:c.-332G>A	XP_011526781.1:n.-332G>A