Canonical Allele Identifier: CA2652992632

Gene: ADA

Linked Data

• gnomAD v4: 20-44651876-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651876G>A , CM000682.2:g.44651876G>A	GRCh38
NC_000020.10:g.43280517G>A , CM000682.1:g.43280517G>A	GRCh37
NC_000020.9:g.42713931G>A	NCBI36
NG_007385.1:g.4860C>T , LRG_16:g.4860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+26C>T	ENSP00000512234.1:n.-121+26C>T
ENST00000696039.1:n.321+26C>T
ENST00000696062.1:c.96+224C>T	ENSP00000512365.1:n.96+224C>T
ENST00000696064.1:c.-118+26C>T	ENSP00000512367.1:n.-118+26C>T
ENST00000696065.1:c.-121+26C>T	ENSP00000512368.1:n.-121+26C>T
ENST00000535573.1:n.332+26C>T
ENST00000536076.1:n.213+26C>T
XM_011528479.1:c.-257+26C>T	XP_011526781.1:n.-257+26C>T