Canonical Allele Identifier: CA635985525

Gene: ADA

Linked Data

• dbSNP Id: rs1467913609
• gnomAD v2: 20-43280620-T-G
• gnomAD v3: 20-44651979-T-G
• gnomAD v4: 20-44651979-T-G
• MyVariant Identifiers: chr20:g.43280620T>G (hg19) ; chr20:g.44651979T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651979T>G , CM000682.2:g.44651979T>G	GRCh38
NC_000020.10:g.43280620T>G , CM000682.1:g.43280620T>G	GRCh37
NC_000020.9:g.42714034T>G	NCBI36
NG_007385.1:g.4757A>C , LRG_16:g.4757A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-198A>C	ENSP00000512234.1:n.-198A>C
ENST00000696039.1:n.244A>C
ENST00000696062.1:c.96+121A>C	ENSP00000512365.1:n.96+121A>C
ENST00000696064.1:c.-195A>C	ENSP00000512367.1:n.-195A>C
ENST00000535573.1:n.255A>C
ENST00000536076.1:n.136A>C
XM_011528479.1:c.-334A>C	XP_011526781.1:n.-334A>C