Canonical Allele Identifier: CA2652992479

Gene: ADA

Linked Data

• gnomAD v4: 20-44651740-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44651740C>G , CM000682.2:g.44651740C>G	GRCh38
NC_000020.10:g.43280381C>G , CM000682.1:g.43280381C>G	GRCh37
NC_000020.9:g.42713795C>G	NCBI36
NG_007385.1:g.4996G>C , LRG_16:g.4996G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000536076.2:c.-121+162G>C	ENSP00000512234.1:n.-121+162G>C
ENST00000537820.2:c.-133G>C	ENSP00000441818.1:n.-133G>C
ENST00000696039.1:n.321+162G>C
ENST00000696062.1:c.96+360G>C	ENSP00000512365.1:n.96+360G>C
ENST00000696064.1:c.-118+162G>C	ENSP00000512367.1:n.-118+162G>C
ENST00000696065.1:c.-121+162G>C	ENSP00000512368.1:n.-121+162G>C
ENST00000696078.1:c.-133G>C	ENSP00000512377.1:n.-133G>C
ENST00000372874.8:c.-133G>C	ENSP00000361965.4:n.-133G>C
ENST00000535573.1:n.332+162G>C
ENST00000536076.1:n.213+162G>C
XM_011528479.1:c.-257+162G>C	XP_011526781.1:n.-257+162G>C
NM_000022.3:c.-133G>C	NP_000013.2:n.-133G>C
NM_001322050.1:c.-422G>C	NP_001308979.1:n.-422G>C
NM_001322051.1:c.-133G>C	NP_001308980.1:n.-133G>C
NR_136160.1:n.19G>C