Canonical Allele Identifier: CA315457423

Gene: ADA

Linked Data

• dbSNP Id: rs897819267
• gnomAD v2: 20-43280603-A-G
• gnomAD v3: 20-44651962-A-G
• gnomAD v4: 20-44651962-A-G
• MyVariant Identifiers: chr20:g.43280603A>G (hg19) ; chr20:g.44651962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651962A>G , CM000682.2:g.44651962A>G	GRCh38
NC_000020.10:g.43280603A>G , CM000682.1:g.43280603A>G	GRCh37
NC_000020.9:g.42714017A>G	NCBI36
NG_007385.1:g.4774T>C , LRG_16:g.4774T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-181T>C	ENSP00000512234.1:n.-181T>C
ENST00000696039.1:n.261T>C
ENST00000696062.1:c.96+138T>C	ENSP00000512365.1:n.96+138T>C
ENST00000696064.1:c.-178T>C	ENSP00000512367.1:n.-178T>C
ENST00000535573.1:n.272T>C
ENST00000536076.1:n.153T>C
XM_011528479.1:c.-317T>C	XP_011526781.1:n.-317T>C