Canonical Allele Identifier: CA744696945

Gene: ADA

Linked Data

• dbSNP Id: rs1391312465
• gnomAD v4: 20-44651935-G-A
• MyVariant Identifiers: chr20:g.43280576G>A (hg19) ; chr20:g.44651935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651935G>A , CM000682.2:g.44651935G>A	GRCh38
NC_000020.10:g.43280576G>A , CM000682.1:g.43280576G>A	GRCh37
NC_000020.9:g.42713990G>A	NCBI36
NG_007385.1:g.4801C>T , LRG_16:g.4801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-154C>T	ENSP00000512234.1:n.-154C>T
ENST00000696039.1:n.288C>T
ENST00000696062.1:c.96+165C>T	ENSP00000512365.1:n.96+165C>T
ENST00000696064.1:c.-151C>T	ENSP00000512367.1:n.-151C>T
ENST00000535573.1:n.299C>T
ENST00000536076.1:n.180C>T
XM_011528479.1:c.-290C>T	XP_011526781.1:n.-290C>T