Canonical Allele Identifier: CA744696956

Gene: ADA

Linked Data

• dbSNP Id: rs904286890
• gnomAD v4: 20-44651967-C-A
• MyVariant Identifiers: chr20:g.43280608C>A (hg19) ; chr20:g.44651967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651967C>A , CM000682.2:g.44651967C>A	GRCh38
NC_000020.10:g.43280608C>A , CM000682.1:g.43280608C>A	GRCh37
NC_000020.9:g.42714022C>A	NCBI36
NG_007385.1:g.4769G>T , LRG_16:g.4769G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-186G>T	ENSP00000512234.1:n.-186G>T
ENST00000696039.1:n.256G>T
ENST00000696062.1:c.96+133G>T	ENSP00000512365.1:n.96+133G>T
ENST00000696064.1:c.-183G>T	ENSP00000512367.1:n.-183G>T
ENST00000535573.1:n.267G>T
ENST00000536076.1:n.148G>T
XM_011528479.1:c.-322G>T	XP_011526781.1:n.-322G>T