Canonical Allele Identifier: CA2652992497

Gene: ADA

Linked Data

• gnomAD v4: 20-44651755-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651755G>T , CM000682.2:g.44651755G>T	GRCh38
NC_000020.10:g.43280396G>T , CM000682.1:g.43280396G>T	GRCh37
NC_000020.9:g.42713810G>T	NCBI36
NG_007385.1:g.4981C>A , LRG_16:g.4981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+147C>A	ENSP00000512234.1:n.-121+147C>A
ENST00000696039.1:n.321+147C>A
ENST00000696062.1:c.96+345C>A	ENSP00000512365.1:n.96+345C>A
ENST00000696064.1:c.-118+147C>A	ENSP00000512367.1:n.-118+147C>A
ENST00000696065.1:c.-121+147C>A	ENSP00000512368.1:n.-121+147C>A
ENST00000535573.1:n.332+147C>A
ENST00000536076.1:n.213+147C>A
XM_011528479.1:c.-257+147C>A	XP_011526781.1:n.-257+147C>A
NM_000022.3:c.-148C>A	NP_000013.2:n.-148C>A
NM_001322050.1:c.-437C>A	NP_001308979.1:n.-437C>A
NM_001322051.1:c.-148C>A	NP_001308980.1:n.-148C>A
NR_136160.1:n.4C>A