Canonical Allele Identifier: CA2652992622

Gene: ADA

Linked Data

• gnomAD v4: 20-44651868-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651868A>C , CM000682.2:g.44651868A>C	GRCh38
NC_000020.10:g.43280509A>C , CM000682.1:g.43280509A>C	GRCh37
NC_000020.9:g.42713923A>C	NCBI36
NG_007385.1:g.4868T>G , LRG_16:g.4868T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+34T>G	ENSP00000512234.1:n.-121+34T>G
ENST00000696039.1:n.321+34T>G
ENST00000696062.1:c.96+232T>G	ENSP00000512365.1:n.96+232T>G
ENST00000696064.1:c.-118+34T>G	ENSP00000512367.1:n.-118+34T>G
ENST00000696065.1:c.-121+34T>G	ENSP00000512368.1:n.-121+34T>G
ENST00000535573.1:n.332+34T>G
ENST00000536076.1:n.213+34T>G
XM_011528479.1:c.-257+34T>G	XP_011526781.1:n.-257+34T>G