Canonical Allele Identifier: CA635985523

Gene: ADA

Linked Data

• dbSNP Id: rs1304984758
• gnomAD v2: 20-43280591-G-A
• gnomAD v3: 20-44651950-G-A
• gnomAD v4: 20-44651950-G-A
• MyVariant Identifiers: chr20:g.43280591G>A (hg19) ; chr20:g.44651950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651950G>A , CM000682.2:g.44651950G>A	GRCh38
NC_000020.10:g.43280591G>A , CM000682.1:g.43280591G>A	GRCh37
NC_000020.9:g.42714005G>A	NCBI36
NG_007385.1:g.4786C>T , LRG_16:g.4786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-169C>T	ENSP00000512234.1:n.-169C>T
ENST00000696039.1:n.273C>T
ENST00000696062.1:c.96+150C>T	ENSP00000512365.1:n.96+150C>T
ENST00000696064.1:c.-166C>T	ENSP00000512367.1:n.-166C>T
ENST00000535573.1:n.284C>T
ENST00000536076.1:n.165C>T
XM_011528479.1:c.-305C>T	XP_011526781.1:n.-305C>T