Canonical Allele Identifier: CA315457394

Gene: ADA

Linked Data

• dbSNP Id: rs556492955
• gnomAD v2: 20-43280588-C-G
• gnomAD v3: 20-44651947-C-G
• gnomAD v4: 20-44651947-C-G
• MyVariant Identifiers: chr20:g.43280588C>G (hg19) ; chr20:g.44651947C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651947C>G , CM000682.2:g.44651947C>G	GRCh38
NC_000020.10:g.43280588C>G , CM000682.1:g.43280588C>G	GRCh37
NC_000020.9:g.42714002C>G	NCBI36
NG_007385.1:g.4789G>C , LRG_16:g.4789G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-166G>C	ENSP00000512234.1:n.-166G>C
ENST00000696039.1:n.276G>C
ENST00000696062.1:c.96+153G>C	ENSP00000512365.1:n.96+153G>C
ENST00000696064.1:c.-163G>C	ENSP00000512367.1:n.-163G>C
ENST00000535573.1:n.287G>C
ENST00000536076.1:n.168G>C
XM_011528479.1:c.-302G>C	XP_011526781.1:n.-302G>C