Canonical Allele Identifier: CA315457441

Gene: ADA

Linked Data

• dbSNP Id: rs1051991849
• gnomAD v3: 20-44651981-C-A
• gnomAD v4: 20-44651981-C-A
• MyVariant Identifiers: chr20:g.43280622C>A (hg19) ; chr20:g.44651981C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651981C>A , CM000682.2:g.44651981C>A	GRCh38
NC_000020.10:g.43280622C>A , CM000682.1:g.43280622C>A	GRCh37
NC_000020.9:g.42714036C>A	NCBI36
NG_007385.1:g.4755G>T , LRG_16:g.4755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-200G>T	ENSP00000512234.1:n.-200G>T
ENST00000696039.1:n.242G>T
ENST00000696062.1:c.96+119G>T	ENSP00000512365.1:n.96+119G>T
ENST00000696064.1:c.-197G>T	ENSP00000512367.1:n.-197G>T
ENST00000535573.1:n.253G>T
ENST00000536076.1:n.134G>T
XM_011528479.1:c.-336G>T	XP_011526781.1:n.-336G>T