Canonical Allele Identifier: CA744696970

Gene: ADA

Linked Data

• dbSNP Id: rs1433430211
• gnomAD v4: 20-44651990-C-T
• MyVariant Identifiers: chr20:g.43280631C>T (hg19) ; chr20:g.44651990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651990C>T , CM000682.2:g.44651990C>T	GRCh38
NC_000020.10:g.43280631C>T , CM000682.1:g.43280631C>T	GRCh37
NC_000020.9:g.42714045C>T	NCBI36
NG_007385.1:g.4746G>A , LRG_16:g.4746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-209G>A	ENSP00000512234.1:n.-209G>A
ENST00000696039.1:n.233G>A
ENST00000696062.1:c.96+110G>A	ENSP00000512365.1:n.96+110G>A
ENST00000696064.1:c.-206G>A	ENSP00000512367.1:n.-206G>A
ENST00000535573.1:n.244G>A
ENST00000536076.1:n.125G>A
XM_011528479.1:c.-345G>A	XP_011526781.1:n.-345G>A