Canonical Allele Identifier: CA2652992680

Gene: ADA

Linked Data

• gnomAD v4: 20-44651915-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651915C>A , CM000682.2:g.44651915C>A	GRCh38
NC_000020.10:g.43280556C>A , CM000682.1:g.43280556C>A	GRCh37
NC_000020.9:g.42713970C>A	NCBI36
NG_007385.1:g.4821G>T , LRG_16:g.4821G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-134G>T	ENSP00000512234.1:n.-134G>T
ENST00000696039.1:n.308G>T
ENST00000696062.1:c.96+185G>T	ENSP00000512365.1:n.96+185G>T
ENST00000696064.1:c.-131G>T	ENSP00000512367.1:n.-131G>T
ENST00000696065.1:c.-134G>T	ENSP00000512368.1:n.-134G>T
ENST00000535573.1:n.319G>T
ENST00000536076.1:n.200G>T
XM_011528479.1:c.-270G>T	XP_011526781.1:n.-270G>T