Canonical Allele Identifier: CA2577406096

Gene: ADA

Linked Data

• gnomAD v4: 20-44651743-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651743G>A , CM000682.2:g.44651743G>A	GRCh38
NC_000020.10:g.43280384G>A , CM000682.1:g.43280384G>A	GRCh37
NC_000020.9:g.42713798G>A	NCBI36
NG_007385.1:g.4993C>T , LRG_16:g.4993C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+159C>T	ENSP00000512234.1:n.-121+159C>T
ENST00000537820.2:c.-136C>T	ENSP00000441818.1:n.-136C>T
ENST00000696039.1:n.321+159C>T
ENST00000696062.1:c.96+357C>T	ENSP00000512365.1:n.96+357C>T
ENST00000696064.1:c.-118+159C>T	ENSP00000512367.1:n.-118+159C>T
ENST00000696065.1:c.-121+159C>T	ENSP00000512368.1:n.-121+159C>T
ENST00000696078.1:c.-136C>T	ENSP00000512377.1:n.-136C>T
ENST00000535573.1:n.332+159C>T
ENST00000536076.1:n.213+159C>T
XM_011528479.1:c.-257+159C>T	XP_011526781.1:n.-257+159C>T
NM_000022.3:c.-136C>T	NP_000013.2:n.-136C>T
NM_001322050.1:c.-425C>T	NP_001308979.1:n.-425C>T
NM_001322051.1:c.-136C>T	NP_001308980.1:n.-136C>T
NR_136160.1:n.16C>T