Canonical Allele Identifier: CA315457382

Gene: ADA

Linked Data

• dbSNP Id: rs186825837
• gnomAD v3: 20-44651945-C-A
• gnomAD v4: 20-44651945-C-A
• MyVariant Identifiers: chr20:g.43280586C>A (hg19) ; chr20:g.44651945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651945C>A , CM000682.2:g.44651945C>A	GRCh38
NC_000020.10:g.43280586C>A , CM000682.1:g.43280586C>A	GRCh37
NC_000020.9:g.42714000C>A	NCBI36
NG_007385.1:g.4791G>T , LRG_16:g.4791G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-164G>T	ENSP00000512234.1:n.-164G>T
ENST00000696039.1:n.278G>T
ENST00000696062.1:c.96+155G>T	ENSP00000512365.1:n.96+155G>T
ENST00000696064.1:c.-161G>T	ENSP00000512367.1:n.-161G>T
ENST00000535573.1:n.289G>T
ENST00000536076.1:n.170G>T
XM_011528479.1:c.-300G>T	XP_011526781.1:n.-300G>T