Canonical Allele Identifier: CA315457372

Gene: ADA

Linked Data

• dbSNP Id: rs940002081
• gnomAD v2: 20-43280569-G-T
• gnomAD v3: 20-44651928-G-T
• gnomAD v4: 20-44651928-G-T
• MyVariant Identifiers: chr20:g.43280569G>T (hg19) ; chr20:g.44651928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651928G>T , CM000682.2:g.44651928G>T	GRCh38
NC_000020.10:g.43280569G>T , CM000682.1:g.43280569G>T	GRCh37
NC_000020.9:g.42713983G>T	NCBI36
NG_007385.1:g.4808C>A , LRG_16:g.4808C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-147C>A	ENSP00000512234.1:n.-147C>A
ENST00000696039.1:n.295C>A
ENST00000696062.1:c.96+172C>A	ENSP00000512365.1:n.96+172C>A
ENST00000696064.1:c.-144C>A	ENSP00000512367.1:n.-144C>A
ENST00000535573.1:n.306C>A
ENST00000536076.1:n.187C>A
XM_011528479.1:c.-283C>A	XP_011526781.1:n.-283C>A