Canonical Allele Identifier: CA315457399

Gene: ADA

Linked Data

• dbSNP Id: rs1049555991
• gnomAD v4: 20-44651952-T-C
• MyVariant Identifiers: chr20:g.43280593T>C (hg19) ; chr20:g.44651952T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651952T>C , CM000682.2:g.44651952T>C	GRCh38
NC_000020.10:g.43280593T>C , CM000682.1:g.43280593T>C	GRCh37
NC_000020.9:g.42714007T>C	NCBI36
NG_007385.1:g.4784A>G , LRG_16:g.4784A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-171A>G	ENSP00000512234.1:n.-171A>G
ENST00000696039.1:n.271A>G
ENST00000696062.1:c.96+148A>G	ENSP00000512365.1:n.96+148A>G
ENST00000696064.1:c.-168A>G	ENSP00000512367.1:n.-168A>G
ENST00000535573.1:n.282A>G
ENST00000536076.1:n.163A>G
XM_011528479.1:c.-307A>G	XP_011526781.1:n.-307A>G