Canonical Allele Identifier: CA315457378

Gene: ADA

Linked Data

• dbSNP Id: rs542987311
• gnomAD v2: 20-43280579-G-T
• gnomAD v3: 20-44651938-G-T
• gnomAD v4: 20-44651938-G-T
• MyVariant Identifiers: chr20:g.43280579G>T (hg19) ; chr20:g.44651938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651938G>T , CM000682.2:g.44651938G>T	GRCh38
NC_000020.10:g.43280579G>T , CM000682.1:g.43280579G>T	GRCh37
NC_000020.9:g.42713993G>T	NCBI36
NG_007385.1:g.4798C>A , LRG_16:g.4798C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-157C>A	ENSP00000512234.1:n.-157C>A
ENST00000696039.1:n.285C>A
ENST00000696062.1:c.96+162C>A	ENSP00000512365.1:n.96+162C>A
ENST00000696064.1:c.-154C>A	ENSP00000512367.1:n.-154C>A
ENST00000535573.1:n.296C>A
ENST00000536076.1:n.177C>A
XM_011528479.1:c.-293C>A	XP_011526781.1:n.-293C>A